New York Approved
Neurology

Select a pre-curated test, combine multiple tests, or customize your own test for each patient. Invitae’s pricing is per clinical area for initial order and re-requisition.

The tests and genes on this page are organized into clinical areas. Tests in the Neurology section and on the Cardiology page are in a single clinical area. If your order contains tests from multiple clinical areas, you will need to send in two sample tubes and your order will represent two billable events. Your test results will be delivered as two reports. Please contact Client Services with any questions.

Invitae is a New York state approved clinical laboratory. The tests and genes on this page are approved or under conditional approval by New York State to be performed at Invitae and do not require a New York exemption form.

Clinical Area: Neurology

up to 21 genes

Invitae Dystonia Comprehensive Panel

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Genetic testing for up to 21 genes associated with dystonia, including the most commonly causative genes.

GENES TESTED:

Primary Panel:
ANO3 ATP1A3 GCH1 GNAL PARK2 PNKD PRKRA PRRT2 SGCE SLC2A1 SLC6A3 SPR TH THAP1 TOR1A TUBB4A

PRKRA: Deletion/duplication analysis is not offered for exons 1 or 2.

Add-on preliminary-evidence genes:
CIZ1 DRD2 HPCA KCTD17 TOR1AIP1

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Malignant Hyperthermia Susceptibility
2 genes

Invitae Malignant Hyperthermia Susceptibility Panel

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Genetic testing for the two genes that are currently known to be associated with malignant hyperthermia susceptibility (MHS).

GENES TESTED:

CACNA1S RYR1

RYR1: Deletion/duplication analysis is not offered for exons 48 or 49.

Muscular Dystrophy
1 gene

Invitae Dystrophinopathies Test

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Genetic testing for DMD, associated with Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and dilated cardiomyopathy (DCM).

GENES TESTED:

DMD

DMD: Analysis guarantees del/dup detection at single-exon resolution.

Myopathy
1 gene

Invitae Central Core Disease Test

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Genetic testing for the RYR1 gene, which is associated with central core disease—a condition that is characterized by muscle weakness and the presence of central cores upon muscle biopsy.

GENES TESTED:

RYR1

RYR1: Deletion/duplication analysis is not offered for exons 48 or 49.

Charcot-Marie-Tooth Disease
up to 45 genes

Invitae Charcot-Marie-Tooth Disease Comprehensive Panel

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Genetic testing for up to 45 genes that cause dominant, recessive, and X-linked Charcot-Marie-Tooth disease (CMT). This test covers the most common causative genes.

GENES TESTED:

Primary Panel:
AARS AIFM1 BSCL2 DNAJB2 DNM2 DYNC1H1 EGR2 FGD4 FIG4 GARS GDAP1 GJB1 GNB4 HARS HINT1 HSPB1 HSPB8 IGHMBP2 INF2 LITAF LMNA LRSAM1 MED25 MFN2 MORC2 MPZ MTMR2 NDRG1 NEFL PDK3 PLEKHG5 PMP22 PRPS1 PRX RAB7A SBF2 SH3TC2 SPG11 TFG TRIM2 TRPV4 YARS

INF2: Sequencing analysis is not offered for exon 8.

Add-on preliminary-evidence genes:
MARS SLC25A46 SURF1

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 25 genes

Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel

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Genetic testing for up to 25 genes that cause Charcot-Marie-Tooth disease (CMT) with dominant inheritance. This panel includes the most commonly causative genes.

GENES TESTED:

Primary Panel:
AARS BSCL2 DNM2 DYNC1H1 EGR2 GARS GDAP1 GNB4 HARS HSPB1 HSPB8 INF2 LITAF LMNA LRSAM1 MFN2 MORC2 MPZ NEFL PMP22 RAB7A TFG TRPV4 YARS

INF2: Sequencing analysis is not offered for exon 8.

Add-on preliminary-evidence genes:
MARS

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 22 genes

Invitae Charcot-Marie-Tooth Disease Autosomal Recessive Panel

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Genetic testing for up to 22 genes that cause Charcot-Marie-Tooth disease (CMT) with recessive inheritance. This panel includes the most commonly causative genes.

GENES TESTED:

Primary Panel:
DNAJB2 EGR2 FGD4 FIG4 GDAP1 HINT1 IGHMBP2 LMNA LRSAM1 MED25 MFN2 MTMR2 NDRG1 NEFL PLEKHG5 PRX SBF2 SH3TC2 SPG11 TRIM2

Add-on preliminary-evidence genes:
SLC25A46 SURF1

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

4 genes

Invitae Charcot-Marie-Tooth Disease X-linked Panel

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Genetic testing for four genes that cause Charcot-Marie-Tooth (CMT) disease with X-linked inheritance. This panel includes the most commonly causative genes.

GENES TESTED:

AIFM1 GJB1 PDK3 PRPS1

Hereditary Sensory and Autonomic Neuropathy
1 gene

Invitae Familial Dysautonomia Test

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Genetic testing for IKBKAP deletions/duplications and sequence variants which cause familial dysautonomia (FD).

GENES TESTED:

IKBKAP

Hereditary Spastic Paraplegia
up to 63 genes

Invitae Hereditary Spastic Paraplegia Comprehensive Panel

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Genetic testing for up to 63 genes that cause dominant, recessive, and X-linked hereditary spastic paraplegia (HSP), including the most commonly causative genes.

GENES TESTED:

Primary Panel:
ABCD1 ALDH18A1 ALS2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ATL1 B4GALNT1 BSCL2 C12orf65 CYP2U1 CYP7B1 DDHD1 DDHD2 ERLIN2 FA2H GBA2 GJC2 HSPD1 KDM5C KIAA0196 KIF1A KIF1C KIF5A L1CAM NIPA1 NT5C2 PLP1 PNPLA6 REEP1 RTN2 SACS SLC16A2 SPAST SPG11 SPG20 SPG21 SPG7 TECPR2 VAMP1 ZFYVE26

GJC2: Analysis includes the promoter variants NM_020435.3:c.-167A>G and NM_020435.3:c.-170A>G.

Add-on preliminary-evidence genes:
AMPD2 ARL6IP1 ARSI C19orf12 CCT5 CPT1C ENTPD1 ERLIN1 EXOSC3 IBA57 MAG PGAP1 RAB3GAP2 REEP2 SLC33A1 TFG USP8 VPS37A ZFR ZFYVE27

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 16 genes

Invitae Hereditary Spastic Paraplegia Autosomal Dominant Panel

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Genetic testing for up to 16 genes that cause autosomal dominant hereditary spastic paraplegia (HSP), including the most commonly causative genes.

GENES TESTED:

Primary Panel:
ALDH18A1 ATL1 BSCL2 HSPD1 KIAA0196 KIF1A KIF5A NIPA1 REEP1 RTN2 SPAST VAMP1

Add-on preliminary-evidence genes:
CPT1C REEP2 SLC33A1 ZFYVE27

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 45 genes

Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel

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Genetic testing for up to 45 genes that cause autosomal recessive hereditary spastic paraplegia (HSP), including the most commonly causative genes.

GENES TESTED:

Primary Panel:
ALDH18A1 ALS2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 B4GALNT1 C12orf65 CYP2U1 CYP7B1 DDHD1 DDHD2 ERLIN2 FA2H GBA2 GJC2 KIF1A KIF1C NT5C2 PNPLA6 SACS SPG11 SPG20 SPG21 SPG7 TECPR2 ZFYVE26

GJC2: Analysis includes the promoter variants NM_020435.3:c.-167A>G and NM_020435.3:c.-170A>G.

Add-on preliminary-evidence genes:
AMPD2 ARL6IP1 ARSI C19orf12 CCT5 ENTPD1 ERLIN1 EXOSC3 IBA57 MAG PGAP1 RAB3GAP2 REEP2 TFG USP8 VPS37A ZFR

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

5 genes

Invitae Hereditary Spastic Paraplegia X-linked Panel

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Genetic testing for 5 genes that cause X-linked hereditary spastic paraplegia (HSP).

GENES TESTED:

ABCD1 KDM5C L1CAM PLP1 SLC16A2

Small Fiber Neuropathy
up to 2 genes

Invitae Small Fiber Neuropathy Test

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Genetic testing for up to two genes that are known to be associated with small fiber neuropathy (SFNP).

GENES TESTED:

Primary Panel:
SCN9A

Add-on preliminary-evidence gene:
SCN10A

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 150 genes

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel

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Genetic testing for up to 158 genes that are known to be associated with either cardiomyopathy or skeletal myopathy.

GENES TESTED:

Primary Panel:
ABCC9 ACTA1 ACTC1 ACTN2 AGL ANO5 ATP2A1 B3GALNT2 B4GAT1 BAG3 BIN1 CACNA1C CAPN3 CAV3 CCDC78 CFL2 CHKB CNTN1 COL6A1 COL6A2 COL6A3 CPT2 CRYAB CSRP3 DAG1 DES DMD DNAJB6 DNM2 DOLK DPM1 DPM2 DPM3 DSC2 DSG2 DSP DYSF EMD EYA4 FHL1 FKRP FKTN FLNC GAA GLA GMPPB GNE HCN4 ISPD ITGA7 JUP KBTBD13 KLHL40 KLHL41 LAMA2 LAMP2 LARGE LMNA LMOD3 MATR3 MTM1 MYBPC3 MYH7 MYL2 MYL3 MYOT NEB PKP2 PLEC PLN PNPLA2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRKAG2 RAF1 RBM20 RYR1 RYR2 SCN5A SEPN1 SGCA SGCB SGCD SGCG SLC22A5 STAC3 TAZ TCAP TGFB3 TIA1 TMEM43 TMEM5 TNNC1 TNNI3 TNNT1 TNNT2 TNPO3 TPM1 TPM2 TPM3 TRAPPC11 TRIM32 TTN TTR VCL VCP

DMD: Analysis guarantees del/dup detection at single-exon resolution.
FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T as well as the 3 kb retrotransposon insertion in the 3' UTR at c.*4287_*4288ins3062.
GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.
GLA: Analysis includes the intronic variant NM_000169.2:c.IVS4+919G>A.
MYBPC3: Analysis includes the intronic variant NM_000256.3:c.3628-41_3628-17del25.
NEB: This assay detects the exon 55 deletion found in Ashkenazi Jewish individuals in association with nemaline myopathy. Exons 82-105 contain a large triplicated region. Deletion/duplication analysis excludes this region. Sequence changes in this region can be detected, but this assay cannot determine which of the three repeat units is affected (and zygosity is often ambiguous). All variants in this region are reported relative to the exon 82-89 repeat.
RYR1: Deletion/duplication analysis is not offered for exons 48 or 49.
SEPN1: Analysis includes the NM_20451.2:c.*1107T>C variant in the 3' UTR.
TTN: Deletion/duplication and sequencing analysis is not offered for exons 153-155 (NM_133378.4). Variants are named relative to the NM_001267550.2 (meta) transcript, but only variants in the coding sequence and intronic boundaries of the clinically relevant NM_133378.4 (N2A) isoform are reported (PMID: 25589632).

Add-on preliminary-evidence genes:
ANKRD1 CALR3 CHRM2 CTF1 CTNNA3 DTNA FHL2 GATA4 GATA6 GATAD1 ILK JPH2 LAMA4 LDB3 LIMS2 LRRC10 MYF6 MYH6 MYLK2 MYOM1 MYOZ2 MYPN NEBL NEXN NKX2-5 NPPA PDLIM3 PLEKHM2 PRDM16 SYNE1 SYNE2 TMPO TOR1AIP1 TXNRD2

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

ANKRD1: Deletion/duplication analysis is not offered for exons 3 or 4.

Add-on autosomal recessive syndromic pediatric cardiomyopathy:
ACADVL ALMS1 DNAJC19 ELAC2 MTO1 SDHA TMEM70

Genes associated with early-onset cardiomyopathy as part of an autosomal recessive disorder may be included at no additional charge. Clinicians may wish to include these genes for patients who present in infancy or early childhood with clinical features of a multi-system disorder. Please note, SDHA is included due to its association with autosomal recessive mitochondrial complex II deficiency. However, SDHA is most commonly associated with autosomal dominant predisposition to cancer.

SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.

Clinical Area: Pediatric and Rare Disease

1 gene

Invitae CHARGE Syndrome Test

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Genetic testing for CHD7, the gene associated with CHARGE syndrome. CHARGE syndrome is characterized by coloboma, heart defect, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies.

GENES TESTED:

CHD7

10 genes

Invitae Neuronal Ceroid Lipofuscinoses Panel

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Genetic testing for up to ten genes that are associated with neuronal ceroid lipofuscinoses (NCL), also known as Batten disease.

GENES TESTED:

CLN2 (TPP1) CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5 KCTD7 MFSD8 PPT1

2 genes

Invitae Tuberous Sclerosis Complex Panel

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Genetic testing for TSC1 and TSC2 which are associated with tuberous sclerosis complex (TSC) featuring kidney, brain, skin, lung, and heart tumors.

GENES TESTED:

TSC1 TSC2

To add genes to your cart, first select a clinical area to see available combinations

  • Clinical Area: Neurology
  • Clinical Area: Pediatric and Rare Disease

Gene
A

The AARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) (MedGen UID: 413754).

The ABCC9 gene is associated with autosomal dominant Cantu syndrome (MedGen UID: 208647), dilated cardiomyopathy (DCM) (MedGen UID: 325268), Brugada syndrome (BrS) (PMID: 24439875), and atrial fibrillation (MedGen UID: 481325).

The ABCD1 gene is associated with X-linked adrenoleukodystrophy (ALD) (MedGen UID: 57667).

The ACADVL gene is associated with autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (MedGen UID: 87459).

Synonym(s): ACTA

The ACTA1 gene is associated with autosomal dominant and recessive nemaline myopathy 3 (NEM3) (MedGen UID: 371799) and autosomal dominant congenital fiber-type disproportion (CFTD) (MedGen UID: 108177). Other ACTA1-related disorders have also been reported (OMIM: 102610).

Synonym(s): BRWS1; PS1TP5BP1

The ACTB gene is associated with autosomal dominant Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome (MedGen UID: 340943). Additionally, the ACTB gene has preliminary evidence supporting a correlation with juvenile-onset dystonia (PMID: 25052316, 16685646).

Synonym(s): ACTC; ASD5; CMD1R; CMH11; LVNC4

The ACTC1 gene is associated with autosomal dominant atrial septal defects (ASD) (MedGen UID: 412580), hypertrophic cardiomyopathy (HCM) (MedGen UID: 436962), dilated cardiomyopathy (DCM) (MedGen UID: 462031) and left ventricular noncompaction (LVNC) (MedGen UID: 349005).

The ACTN2 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) with or without left ventricular noncompaction (LVNC) (MedGen UID: 393713) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649).

Synonym(s): AMPS; ASASE; ASL

The ADSL gene is associated with autosomal recessive adenylosuccinate lyase (ADSL) deficiency (MedGen UID: 78641).

AGL
Synonym(s): GDE

The AGL gene is associated with autosomal recessive glycogen storage disease type III (GSD III) (MedGen UID: 6641).

The AGRN gene is associated with autosomal recessive congenital myasthenic syndrome 8 (CMS8) (MedGen UID: 815069).

Synonym(s): PDCD8; NAMSD

The AIFM1 gene is associated with X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), also known as Chowchock syndrome (MedGen UID: 162891) and X-linked combined oxidative phosphorylation deficiency 6 (COXPD6) (OMIM: 300816).

Synonym(s): GSAS; PYCS

The ALDH18A1 gene is associated with autosomal dominant cutis laxa (MedGen UID: 851795) and spastic paraplegia (MedGen UID: 322007) and autosomal recessive cutis laxa (PMID: 25077174) and spastic paraplegia (MedGen UID: 376521).

Synonym(s): ATQ1; EPD; PDE

The ALDH7A1 gene is associated with autosomal recessive pyridoxine-dependent epilepsy (MedGen UID: 340341).

Synonym(s): CDG1S; MDS031; TDRD13; CXorf45; GLT28D1; YGL047W; EIEE36

The ALG13 gene is associated with the X-linked congenital disorder of glycosylation ALG13-CDG (CDG-Is) (MedGen UID 763818).

Synonym(s): CDGIi; FLJ14511; hALPG2; NET38

The ALG2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive ALG2-congenital disorder of glycosylation (CDG-Ii) and autosomal recessive congenital myasthenic syndrome 14 (CMS14) (MedGen UID: 831266).

Synonym(s): ALSS

The ALMS1 gene is associated with autosomal recessive Alstrom syndrome (MedGen UID: 78675).

Synonym(s): ALS2CR6

The ALS2 gene is associated with a spectrum of autosomal recessive conditions: infantile-onset ascending hereditary spastic paraplegia (IAHSP) (MedGen UID: 335467), juvenile primary lateral sclerosis (JPLS) (MedGen UID: 342870), and juvenile amyotrophic lateral sclerosis (JALS) (MedGen UID: 349246).

The AMPD2 gene is associated with autosomal recessive pontocerebellar hypoplasia, type 9 (PCH9) (MedGen UID: 799238). Additionally, the AMPD2 gene has preliminary evidence supporting a correlation with spastic paraplegia 63 (SPG63) (PMID: 24482476).

The ANKRD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880) and hypertrophic cardiomyopathy (HCM) (PMID: 19608031).

Synonym(s): C11orf25; TMEM16C

The ANO3 gene is associated with autosomal dominant dystonia 24 (DYT24) (MedGen UID: 767288).

Synonym(s): GDD1; LGMD2L; TMEM16E

The ANO5 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2L (LGDM2L) (MedGen UID: 370102) and Miyoshi muscular dystrophy 3 (MMD3) (MedGen UID: 413750). It is also associated with autosomal dominant gnathodiaphyseal dysplasia (GDD) (MedGen UID: 331575).

Synonym(s): SPG47

The AP4B1 gene is associated with autosomal recessive hereditary spastic paraplegia 47 (SPG47) (MedGen UID: 481368).

The AP4E1 gene is associated with autosomal recessive hereditary spastic paraplegia 51 (SPG51) (MedGen UID: 462406).

The AP4M1 gene is associated with autosomal recessive hereditary spastic paraplegia 50 (SPG50) (MedGen UID: 442869).

The AP4S1 gene is associated with autosomal recessive hereditary spastic paraplegia 52 (SPG52) (MedGen UID: 481373).

Synonym(s): KIAA0415

The AP5Z1 gene is associated with autosomal recessive hereditary spastic paraplegia 48 (SPG48) (MedGen UID: 462251).

Synonym(s): ARGEF15; E5; Ephexin5; Vsm-RhoGEF

The ARHGEF15 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (PMID: 23647072).

Synonym(s): COLLYBISTIN; EIEE8; HPEM-2; PEM-2; PEM2

The ARHGEF9 gene is associated with X-linked recessive hereditary hyperekplexia / early infantile epileptic encephalopathy (MedGen UID: 375581).

The ARL6IP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 24482476).

The ARSI gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hereditary spastic paraplegia (PMID: 24482476).

ARX
Synonym(s): CT121; EIEE1; ISSX; MRX29; MRX32; MRX33; MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS

The ARX gene is associated with X-linked recessive early infantile epileptic encephalopathy (MedGen UID: 483052), or West syndrome, and X-linked lissencephaly with ambiguous genitalia (XLAG) (MedGen UID: 375832).

Synonym(s): AD-FSP; atlastin; FSP1

The ATL1 gene is associated with autosomal dominant hereditary spastic paraplegia type 3A (SPG3A) (MedGen UID: 419393) and hereditary sensory neuropathy type 1D (HSN1D) (MedGen UID: 462322).

The ATL3 gene is associated with autosomal dominant hereditary sensory neuropathy type 1F (HSN1F) (MedGen UID: 816524).

Synonym(s): FHM2; MHP2

The ATP1A2 gene is associated with autosomal dominant familial hemiplegic migraine (MedGen UID: 355962).

Synonym(s): DYT12

The ATP1A3 gene is associated with autosomal dominant dystonia 12 (DYT12) (MedGen UID: 358384), cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS) syndrome (MedGen UID: 318633), and alternating hemiplegia of childhood (AHC) (MedGen UID: 766702).

The ATP2A1 gene is associated with autosomal recessive Brody myopathy (MedGen UID: 371441).

Synonym(s): APT6M8-9; ATP6IP2; ATP6M8-9; ELDF10; HT028; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR; XMRE; XPDS

The ATP6AP2 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant X-linked intellectual disability with epilepsy (PMID: 15746149).

Synonym(s): MNK

The ATP7A gene is associated with X-linked Menkes disease (MedGen UID: 44030), occipital horn syndrome (OHS) (MedGen UID: 82793) and distal hereditary motor neuropathy (HMN) (MedGen UID: 335168).

Synonym(s): ATR2; JMS; MRX52; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX

The ATRX gene is associated with Alpha-thalassemia X-linked intellectual disability (ATRX) syndrome (MedGen UID: 337145).

B

The B3GALNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A11 (MDDGA11) (MedGen UID: 767552).

Synonym(s): GALGT; SPG26

The B4GALNT1 gene is associated with autosomal recessive hereditary spastic paraplegia 26 (SPG26) (PMID: 23746551).

Synonym(s): B3GNT1; B3GNT6

The B4GAT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A13 (MDDGA13) (MedGen UID: 815372).

The BAG3 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 462643) and myofibrillar myopathy 6 (MFM6) (MedGen UID: 414119).

The BICD2 gene is associated with autosomal dominant spinal muscular atrophy, lower extremity predominant 2 (SMALED2) (MedGen UID: 815379).

Synonym(s): AMPHL

The BIN1 gene is associated with autosomal recessive centronuclear myopathy 2 (CNM2) (MedGen UID: 98049). Dominant inheritance has also been reported (PMID: 25260562).

Synonym(s): GNG3LG; SPG17

The BSCL2 gene is associated with a spectrum of autosomal dominant neurological conditions, including Charcot-Marie-Tooth disease type 2 (CMT2) (PMID: 15732094), distal hereditary motor neuropathy type 5 (HMN5) (MedGen UID: 318838), and spastic paraplegia 17 (SPG17), also known as Silver syndrome (MedGen UID: 442302). It is also associated with autosomal recessive congenital generalized lipodystrophy, type 2 (CGL2) (MedGen UID: 318593).

C

The C12orf65 gene is associated with autosomal recessive Hereditary spastic paraplegia 55 (SPG55) (PMID: 23188110, 24080142) and autosomal recessive Combined oxidative phosphorylation deficiency 7 (COXPD7) (MedGen UID: 462151).

Synonym(s): NBIA3; NBIA4; SPG43

The C19ORF12 gene is associated with autosomal recessive neurodegeneration with brain iron accumulation 4(NBIA4) (MedGen UID: 482001). Additionally, the C19ORF12 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 43 (SPG43) (MedGen UID: 760531).

Synonym(s): CCHL1A1; CACNL1A1

The CACNA1C gene is associated with autosomal dominant Timothy syndrome, also known as long QT syndrome (LQTS) type 8 (MedGen UID: 331395), Brugada syndrome (BrS) (MedGen UID: 395633), and short QT syndrome (SQTS) (MedGen UID: 378835).

Synonym(s): HOKPP; MHS5; CACNL1A3

The CACNA1S gene is associated with autosomal dominant malignant hyperthermia susceptibility (MHS) (MedGen UID: 418958) and autosomal dominant hypokalemic periodic paralysis (HOKPP) (MedGen UID: 468371).

Synonym(s): CACNA2D

The CACNA2D2 gene is associated with autosomal recessive early infantile epileptic encephalopathy (PMID: 24358150, 23339110).

Synonym(s): CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6

The CACNB4 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 10762541).

The CALR3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462616).

Synonym(s): LGMD2; LGMD2A

The CAPN3 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) (MedGen UID: 358391).

Synonym(s): CAGH39; CAMGUK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8

The CASK gene is associated with X-linked intellectual disability (ID) (MedGen UID: 411367) and intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) (MedGen UID: 437070).

Synonym(s): CAR; EIG8; FHH; FIH; GPRC2A; HHC; HHC1; HYPOC1; NSHPT; PCAR1

The CASR gene is associated with autosomal dominant familial isolated hyperparathyroidism (FIHP) (PMID: 14985373), autosomal dominant hypocalcemia (ADH) (MedGen UID: 87438), benign familial hypocalciuric hypercalcemia (BFHH) (MedGen UID: 369200), and autosomal recessive neonatal severe hyperparathyroidism (NSHPT) (MedGen UID: 331326). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 18756473) and chronic pancreatitis (PMID: 14641934, 16497624).

The CAV3 gene is associated with autosomal dominant long QT syndrome type 9 (LQT9) (MedGen UID: 395635) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195). It is also associated with a spectrum of neuromuscular conditions including autosomal dominant hyperCKemia (MedGen UID: 69128) and distal myopathy (MedGen UID: 833809), and autosomal dominant and recessive limb-girdle muscular dystrophy type 1C (LGMD1C) (MedGen UID: 371358) and rippling muscle disease (MedGen UID: 342944), collectively known as the caveolinopathies (MedGen UID: 433151).

CBL
Synonym(s): C-CBL; CBL2; FRA11B; NSLL; RNF55

The CBL gene is associated with autosomal dominant Noonan-like syndrome with or without juvenile myelomonocytic leukemia (MedGen UID 462153).

Synonym(s): C16orf25

The CCDC78 gene is associated with autosomal dominant centronuclear myopathy 4 (CNM4) (MedGen UID: 766623).

Synonym(s): C7orf22; OSM; PP10187

The CCM2 gene is associated with autosomal dominant cerebral cavernous malformations (CCM) (MedGen UID: 400438).

The CCT5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary sensory neuropathy with spastic paraplegia (HSP) (MedGen UID: 342492).

Synonym(s): CFAP247; EIEE2; ISSX; STK9

The CDKL5 gene is associated with X-linked dominant early infantile epileptic encephalopathy/West syndrome (MedGen UID: 326463), atypical Rett syndrome (PMID: 16015284, 15689447), and Angelman-like syndrome (MedGen UID: 472054).

Synonym(s): CDO; CDON1; HPE11; ORCAM

The CDON gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant holoprosencephaly (HPE) (PMID: 21802063).

The CFL2 gene is associated with autosomal recessive nemaline myopathy 7 (NEM7) (MedGen UID: 343979).

The CHAT gene is associated with autosomal recessive congenital myasthenic syndrome 6 (CMS6) (MedGen UID: 140751).

Synonym(s): EEOC

The CHD2 gene is associated with autosomal dominant childhood-onset epileptic encephalopathy (MedGen UID: 815608).

Synonym(s): CRG; HH5; IS3; KAL5

The CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567).

Synonym(s): CHKL

The CHKB gene is associated with autosomal recessive congenital muscular dystrophy, megaconial type (MDCMC) (MedGen UID: 355943).

The CHRM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 18451336, 23743182).

Synonym(s): CHRNA

The CHRNA1 gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 373259, 199759) and autosomal recessive fetal akinesia deformation sequence (FADS) (MedGen UID: 381473).

The CHRNA2 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 332082).

Synonym(s): BFNC; EBN; EBN1; NACHR; NACHRA4; NACRA4

The CHRNA4 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 324932).

Synonym(s): CHRNB

The CHRNB1 gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 833647, 833664, 373251).

Synonym(s): EFNL3; nAChRB2

The CHRNB2 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 344263).

Synonym(s): ACHRD

The CHRND gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 833694, 833685, 833675) and autosomal recessive fetal akinesia deformation sequence (FADS) (MedGen UID: 381473).

The CHRNE gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 373251, 344169, 833673).

The CIZ1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dystonia 23 (PMID: 22447717).

The CLCN1 gene is associated with autosomal dominant and recessive myotonia congenita (MedGen UID: 422446, 155852).

Synonym(s): CLC4; ClC-4; ClC-4A; MRX15; MRX49

The CLCN4 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with X-linked early infantile epileptic encephalopathy (PMID: 23647072) and X-linked intellectual disability (PMID: 25644381).

Synonym(s): CLN2; GIG1; LPIC; SCAR7; TPP-1

The CLN2 gene (also known as TPP1) is associated with autosomal recessive neuronal ceroid lipofuscinosis type 2 (MedGen UID: 406281).

Synonym(s): BTN1; BTS; JNCL

The CLN3 gene is associated with autosomal recessive juvenile-onset neuronal ceroid lipofuscinosis (MedGen UID: 155549).

Synonym(s): NCL

The CLN5 gene is associated with autosomal recessive forms of neuronal ceroid lipofuscinosis including late-infanitle, juvenile and adult CLN5 disease (MedGen UID: 376792).

Synonym(s): CLN4A; HsT18960; nclf

The CLN6 gene is associated with autosomal recessive forms of neuronal ceroid lipofuscinosis including late-infantile and adult CLN6 disease (MedGen UID: 356494).

Synonym(s): C8orf61; EPMR

The CLN8 gene is associated with autosomal recessive forms of neuronal ceroid lipofuscinosis including late-infantile and progressive epilepsy with intellectual disability (EPID) CLN8 disease (MedGen UID: 374004).

The CNTN1 gene is associated with autosomal recessive Compton-North congenital myopathy (MYPCN) (MedGen UID: 393406).

Synonym(s): AUTS15; CASPR2; CDFE; NRXN4; PTHSL1

The CNTNAP2 gene is associated with autosomal recessive intellectual disability disorders: cortical dysplasia-focal epilepsy syndrome (CDFES) (MedGen UID: 355859) and Pitt-Hopkins-like syndrome (PMID: 19896112).

The COL6A1 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 331805) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 98046), collectively known as type VI collagenopathies (MedGen UID: 468393).

The COL6A2 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 331805) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 98046), collectively known as type VI collagenopathies (MedGen UID: 468393). Other COL6A2-related disorders have also been reported (OMIM: 120240).

The COL6A3 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 331805) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 98046), collectively known as type VI collagenopathies (MedGen UID: 468393). Other COL6A3-related disorders have also been reported (OMIM: 120250).

The COLQ gene is associated with autosomal recessive congenital myasthenic syndrome 5 (CMS5) (MedGen UID: 400481).

The CPT1C gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant spastic paraplegia 73 (SPG73) (MedGen UID: 833082).

The CPT2 gene is associated with autosomal recessive carnitine palmitoyltransferase II (CPTII or CPT2) deficiency (MedGen UID: 371584, 322211, 318896).

Synonym(s): CMD1II; CRYA2; CTPP2; CTRCT16; HEL-S-101; HSPB5; MFM2

The CRYAB gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 767563) and cataracts (MedGen UID: 462415). It is also associated with autosomal dominant and recessive myofibrillar myopathy 2 (MFM2) (MedGen UID: 324735).

The CSRP3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 429755) and dilated cardiomyopathy (DCM) (MedGen UID: 334498).

Synonym(s): CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD

The CSTB gene is associated with autosomal recessive Unverricht-Lundborg syndrome (MedGen UID: 155923), a subtype of progressive myoclonic epilepsy.

The CTF1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 11058912).

The CTNNA3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 816468).

Synonym(s): CLN10; CPSD; HEL-S-130P

The CTSD gene is associated with autosomal recessive forms of neuronal ceroid lipofuscinosis including congenital and juvenile CLN10 disease (MedGen UID: 350481; PMID: 21990111).

The CYP2U1 gene is associated with autosomal recessive hereditary spastic paraplegia 56 (SPG56) (MedGen UID: 761343).

Synonym(s): SPG5A

The CYP7B1 gene is associated with autosomal recessive hereditary spastic paraplegia type 5A (SPG5A) (MedGen UID: 376521) and autosomal recessive congenital bile acid synthesis defect type 3 (CBAS3) (MedGenUID: 462497).

D
Synonym(s): DAG

The DAG1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A9 (MDDGA9) (MedGen UID: 851332) and type C9 (MDDGC9) (MedGen UID: 462534).

The DCTN1 gene is associated with autosomal dominant Perry syndrome (MedGen UID: 357007), distal hereditary motor neuropathy, type VIIB (HMN7B) (MedGen UID: 375157), and amyotrophic lateral sclerosis 1 (ALS1) (MedGen UID: 400169).

Synonym(s): SPG28

The DDHD1 gene is associated with autosomal recessive hereditary spastic paraplegia 28 (SPG28) (MedGen UID: 332174)

Synonym(s): SPG54; KIAA0725

The DDHD2 gene is associated with autosomal recessive hereditary spastic paraplegia 54 (SPG54) (MedGen UID: 761341).

Synonym(s): DEP.5; FFEVF

The DEPDC5 gene is associated with autosomal dominant familial focal epilepsy with variable foci (FFEVF) (MedGen UID: 348951) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) (MedGEN UID: 432738).

DES

The DES gene is associated with autosomal dominant and recessive myofibrillar myopathy 1 (MFM1) (MedGen UID: 330449). It is also associated with autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R)(MedGen UID: 815467) and autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 387998).

DMD

The DMD gene is associated with X-linked Duchenne muscular dystrophy (DMD) (MedGen UID: 3925), Becker muscular dystrophy (BMD) (MedGen UID: 182959), and dilated cardiomyopathy (DCM) (MedGen UID: 777148).

The DNAJB2 gene is associated with autosomal recessive distal hereditary motor neuropathy, also known as distal spinal muscular atrophy 5 (DSMA5) (MedGen UID: 766903) and Charcot-Marie-Tooth disease type 2T (CMT2T) (MedGen UID: 831274).

Synonym(s): LGMD1D

The DNAJB6 gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E), also known as LGMD1D (MedGen UID: 460114) and distal myopathy (PMID: 26205529).

The DNAJC19 gene is associated with autosomal recessive 3-methylglutaconic aciduria, type V (MedGen UID: 347542).

Synonym(s): CLN4; CLN4B; CSP; DNAJC5A; NCL; mir-941-2; mir-941-3; mir-941-4; mir-941-5

The DNAJC5 gene is associated with autosomal dominant neuronal ceroid lipofuscinosis disease type 4B (MedGen UID: 320287).

The DNM2 gene is associated with autosomal dominant centronuclear myopathy (DNM2-CNM) (MedGen UID: 322437), dominant intermediate Charcot-Marie-Tooth disease type B (CMTDIB) (MedGen UID: 338346) and Charcot-Marie-Tooth disease type 2M (CMT2M) (OMIM: 606482). Additionally, the DNM2 gene has preliminary evidence supporting a correlation with autosomal recessive lethal congenital contracture syndrome (LCCS5) (MedGen UID: 344338).

The DNMT1 gene is associated with autosomal dominant hereditary sensory neuropathy type 1E (HSN1E) (MedGen UID: 481515) and cerebellar ataxia, deafness, and narcolepsy (ADCADN) (MedGen UID: 347726).

Synonym(s): C4orf25

The DOK7 gene is associated with autosomal recessive congenital myasthenic syndrome 10 (CMS10) (MedGen UID: 376880) and fetal akinesia deformation sequence (FADS) (MedGen UID: 220903).

Synonym(s): TMEM15

DOLK is associated with autosomal recessive DOLK-congenital disorder of glycosylation (CDG-Im) (MedGen UID: 332072).

Synonym(s): DPAGT1; DPAGT

The DPAGT1 gene is associated with autosomal recessive DPAGT1-congenital disorder of glycosylation (CDG-Ij) (MedGen UID: 334113) and congenital myasthenic syndrome 13 (CMS13) (MedGen UID: 766559).

The DPM1 gene is associated with autosomal recessive DPM1-congenital disorder of glycosylation (CDG-Ie) (MedGen UID: 324784).

The DPM2 gene is associated with autosomal recessive DPM2-congenital disorder of glycosylation (CDG-Iu) (MedGen UID: 767299).

The DPM3 gene is associated with autosomal recessive DPM3-congenital disorder of glycosylation (CDG-Io) (MedGen UID: 414534).

The DRD2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant myoclonic dystonia (MedGen UID: 331778).

Synonym(s): DSC3

The DSC2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 351237) and autosomal recessive ARVC with palmoplantar keratoderma and woolly hair (OMIM: 125645).

The DSG2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 347543) and dilated cardiomyopathy (DCM) (MedGen UID: 414552).

DSP

The DSP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 336069) and dilated cardiomyopathy (DCM) with woolly hair, keratoderma and tooth agenesis (MedGen UID: 808093), as well as autosomal recessive DCM with woolly hair and keratoderma (MedGen UID: 340124). Additional DSP-related conditions have been reported (OMIM: 125647).

DST

The DST gene is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 6 (HSAN6) (MedGen UID: 761278) and epidermolysis bullosa simplex 2 (EBSB2) (MedGen UID: 815800).

The DTNA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (LVNC) (MedGen UID: 349005).

Synonym(s): CMT2O; DHC1; DHC1a; DNCH1; DNCL; DNECL; DYHC; Dnchc1; HL-3; SMALED1; p22

The DYNC1H1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2O (CMT2O) (MedGen UID: 481850), lower extremity predominant spinal muscular atrophy 1 (SMALED1) (MedGen UID: 322470) and intellectual disability (MedGen UID: 482832).

Synonym(s): LGMD2B

The DYSF gene is associated with autosomal recessive Miyoshi muscular dystrophy type 1 (MMD1) (MedGen UID: 338128) and limb-girdle muscular dystrophy type 2B (LGMD2B) (MedGen UID: 338149), collectively known as the dysferlinopathies (MedGen UID: 419874). Other DYSF-related conditions have also been reported (OMIM: 606768).

E
Synonym(s): EJM1; dJ304B14.2

The EFHC1 gene is associated with autosomal dominant juvenile myoclonic epilepsy (JME) (MedGen UID: 342587) and juvenile absence epilepsy (JAE) (MedGen UID: 4989).

Synonym(s): KROX20

The EGR2 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1D (CMT1D) (MedGen UID: 334709), and autosomal recessive Charcot-Marie-Tooth disease type 4E (CMT4E, also known as congenital hypomyelinating neuropathy) (MedGen UID: 97965).

Synonym(s): EUHMTASE1; Eu-HMTase1; FP13812; GLP; GLP1; KMT1D; bA188C12.1

The EHMT1 gene is associated with autosomal dominant Kleefstra syndrome (MedGen UID: 208639).

The ELAC2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency (MedGen UID: 322999).

EMD

The EMD gene is associated with X-linked Emery-Dreifuss muscular dystrophy (EDMD) (MedGen UID: 148284).

The ENTPD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spastic paraplegia 64 (SPG64) (PMID: 24482476).

Synonym(s): EPM2; MELF

The EPM2A gene is associated with autosomal recessive progressive myoclonus epilepsy, Lafora type (MedGen UID: 155631).

The ERLIN1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hereditary spastic paraplegia (PMID: 24482476).

Synonym(s): C8orf2; SPFH2; Erlin-2; SPG18

The ERLIN2 gene is associated with autosomal recessive hereditary spastic paraplegia 18 (SPG18) (MedGen UID: 442343).

The EXOSC3 gene is associated with autosomal recessive pontocerebellar hypoplasia (PCH) type 1 (MedGen UID: 766363).

Synonym(s): DFNA10; CMD1J

The EYA4 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) with hearing loss (MedGen UID: 343105). Additional EYA4-related conditions have been reported (OMIM: 603550).

F
Synonym(s): FAAH; FAH1; FAXDC1; SCS7; SPG35

The FA2H gene is associated with autosomal recessive hereditary spastic paraplegia 35 (SPG35) (MedGen UID: 777150).

The FAM134B gene is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 2B (HSAN2B) (MedGen UID: 413474).

The FBXO38 gene is associated with autosomal dominant distal hereditary motor neuropathy 2D (HMN2D) (MedGen UID: 777992).

The FGD4 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4H (CMT4H) (MedGen UID: 324487).

Synonym(s): FHL1A

The FHL1 gene is associated with X-linked Emery-Dreifuss muscular dystrophy type 6 (EDMD6) (MedGen UID: 395525), reducing body myopathies (RBM) (MedGen UIDs: 394710, 394714) and hypertrophic cardiomyopathy (PMID: 24114807). Other FHL1-related conditions have been reported (OMIM: 300163).

The FHL2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (PMID: 25358972).

Synonym(s): KIAA0274; SAC3

The FIG4 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4J (CMT4J) (MedGen UID: 370808) and Yunis-Varon syndrome (MedGen UID: 341818). Additionally, the FIG4 gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 11 (ALS11) (PMID: 19118816; MedGen UID: 393399).

Synonym(s): MDC1C; LGMD2I; MDDGA5; MDDGB5; MDDGC5

The FKRP gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A5 (MDDGA5) (MedGen UID:461763), type B5 (MDDGB5) (MedGen UID:335764), and type C5 (MDDGC5) (MedGen UID:339580), and dilated cardiomyopathy (DCM) (MedGen UID:2880).

Synonym(s): FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4

The FKTN gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A4 (MDDGA4), also known as Fukuyama congenital muscular dystrophy (FCMD) (MedGen UID: 140820), type B4 (MDDGB4) (MedGen UID: 413465) and type C4 (MDDGC4) (MedGen UID: 370585), and dilated cardiomyopathy (DCM) (MedGen UID: 370583).

Synonym(s): FLN2

The FLNC gene is associated with autosomal dominant myofibrillar myopathy 5 (MFM5) (MedGen UID: 372186), distal myopathy 4 (MPD4) (MedGen UID: 481352), and dilated cardiomyopathy (PMID: 25633252, 27908349). Additionally, the FLNC gene has preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (PMID: 25351925) and restrictive cardiomyopathy (PMID: 26666891).

Synonym(s): FBP; FOLR

The FOLR1 gene is associated with autosomal recessive cerebral folate deficiency (MedGen UID: 442763).

Synonym(s): BF1; BF2; FHKL3; FKH2; FKHL1; FKHL2; FKHL3; FKHL4; FOXG1A; FOXG1B; FOXG1C; HBF-1; HBF-2; HBF-3; HBF-G2; HBF2; HFK1; HFK2; HFK3; KHL2; QIN

The FOXG1 gene is associated with autosomal dominant congenital / atypical Rett syndrome (MedGen UID: 462055).

Synonym(s): FAST-1; FAST1

FOXH1 is associated with autosomal dominant heterotaxy, which includes congenital heart disease such as tetralogy of Fallot, as well as extracardiac laterality defects (PMID: 18538293). Additionally, the FOXH1 gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214; PMID: 18538293).

G
GAA

The GAA gene is associated with autosomal recessive glycogen storage disease type II (GSDII), also known as Pompe disease (MedGen UID: 5340).

Synonym(s): ECA4; EIEE19; EJM; EJM5

The GABRA1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 483052), childhood absence epilepsy (MedGen UID: 369671), and juvenile myoclonic epilepsy (MedGen UID: 442345).

Synonym(s): ECA5

The GABRB3 gene is associated with autosomal dominant childhood absence epilepsy (CAE), a type of autosomal dominant idiopathic generalized epilepsy (MedGen UID: 393654).

Synonym(s): CAE2; ECA2; GEFSP3

The GABRG2 gene is associated with autosomal dominant childhood absence epilepsy (CAE) (MedGen UID: 334707), generalized epilepsy with febrile seizures plus, and familial febrile seizures (MedGen UID: 370755).

Synonym(s): PIG2; TP53I2; CCDS2; HEL-S-20

The GAMT gene is associated with autosomal recessive cerebral creatine deficiency syndrome (MedGen UID: 154356).

GAN

The GAN gene is associated with autosomal recessive giant axonal neuropathy 1 (GAN1) (MedGen UID: 376775).

Synonym(s): CMT2D

The GARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) (MedGen UID: 316946) and distal hereditary motor neuropathy 5 (HMN5) (MedGen UID: 318838), collectively referred to as GARS-associated axonal neuropathies (MedGen UID: 468432).

Synonym(s): ASD2; TACHD; TOF; VSD1

The GATA4 gene is associated with a spectrum of congenital heart defects including autosomal dominant tetralogy of Fallot (MedGen UID: 21498), ventricular septal defects (MedGen UID: 482407), atrial septal defects (MedGen UID: 334249), atrioventricular septal defects (MedGen UID: 482411). Additionally, the GATA4 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 24041700).

The GATA6 gene has preliminary evidence supporting a correlation with autosomal dominant tetralogy of Fallot (MedGen UID: 21498), atrial septal defects (MedGen UID: 482573), atrioventricular septal defects (MedGen UID: 482569), persistent truncus arteriosus (MIM: 217095), congenital heart defects with pancreatic agenesis (MIM: 600001), and dilated cardiomyopathy (DCM) (PMID: 25119427).

The GATAD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dilated cardiomyopathy (DCM) (MedGen UID: 766323).

Synonym(s): AT; AGAT; Glycine Amidinotransferase (L-Arginine:Glycine Amidinotransferase; L-Arginine:Glycine Amidinotransferase; Glycine Amidinotransferase; Mitochondrial; Transamidinase; CCDS3

The GATM gene is associated with autosomal recessive cerebral creatine deficiency syndrome (MedGen UID: 436367).

Synonym(s): SPG46

The GBA2 gene is associated with autosomal recessive hereditary spastic paraplegia 46 (SPG46) (MedGen UID: 473687).

Synonym(s): GCH; DYT5; DYT14

The GCH1 gene is associated with autosomal dominant dopa-responsive dystonia (DRD) (MedGen UID: 342121). It is also associated with autosomal recessive BH4-deficient hyperphenylalaninemia B (HPABH4B) (MedGen UID: 75683).

Synonym(s): CMT4A

The GDAP1 gene is associated with autosomal recessive and dominant forms of Charcot-Marie-Tooth disease (MedGen UID: 347821, 375064, 334012, 375113).

Synonym(s): GPFT

The GFPT1 gene is associated with autosomal recessive congenital myasthenic syndrome 12 (CMS12) (MedGen UID: 350478).

Synonym(s): CMTX1; CMTX

The GJB1 gene (also known as connexin 32, or Cx32) is associated with X-linked Charcot-Marie-Tooth disease type 1X (CMT1X) (MedGen UID: 98290).

Synonym(s): GJA12

The GJC2 gene is associated with autosomal recessive hereditary spastic paraplegia 44 (SPG44) (MedGen UID: 413042) and autosomal dominant primary lymphadema (MedGen UID: 462082).

GLA

The GLA gene is associated with X-linked Fabry disease (MedGen UID: 8083).

Synonym(s): GCE; GCSP; HYGN1

The GLDC gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).

Synonym(s): CJS; HPE9; PHS2; THP1; THP2

The GLI2 gene is associated with autosomal dominant holoprosencephaly (HPE) (MedGen UID: 324369) and pituitary abnormalities with or without additional features (MedGen UID: 786407).

The GMPPB gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A14 (MDDGA14) (MedGen UID: 815546), type B14 (MDDGB14) (MedGen UID: 815551) and type C14 (MDDGC14) (MedGen UID: 811507). Additionally, the GMPPB gene has preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome (CMS) (PMID: 26133662).

The GNAL gene is associated with autosomal dominant dystonia 25 (DYT25) (MedGen UID: 767361).

Synonym(s): EIEE17; G-ALPHA-o; GNAO; HLA-DQB1

The GNAO1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 815936).

The GNB4 gene is associated with dominant intermediate Charcot-Marie-Tooth disease type F (CMTDIF) (MedGen UID: 767568).

GNE
Synonym(s): IBM2

The GNE gene is associated with autosomal recessive GNE-related myopathy (MedGen UID: 322174) and autosomal dominant sialuria (MedGen UID: 137980).

Synonym(s): Bos1; EPM6; GS27

The GOSR2 gene is associated with autosomal recessive progressive myoclonic epilepsy (MedGen UID: 481257).

Synonym(s): GluN1; MRD8; NMD-R1; NMDA1; NMDAR1; NR1

The GRIN1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (PMID: 25864721, 23934111) and autosomal dominant intellectual disability (MedGen UID: 481912).

Synonym(s): EPND; FESD; GluN2A; LKS; NMDAR2A; NR2A

The GRIN2A gene is associated with autosomal dominant focal epilepsy with speech disorder, with or without intellectual disability (MedGen UID: 322043).

Synonym(s): EIEE27; GluN2B; MRD6; NMDAR2B; NR2B; hNR3

The GRIN2B gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 830511) and autosomal dominant intellectual disability (MedGen UID: 462761).

H

The HARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease, type 2W (CMT2W) (MedGen UID: 851839).

Synonym(s): BCNG-1; BCNG1; EIEE24; HAC-2

The HCN1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 786443).

The HCN4 gene is associated with autosomal dominant left ventricular noncompaction (LVNC) (PMID: 25145517), Brugada syndrome (BrS) (MedGen UID: 413928), and sinus node dysfunction or bradycardia (MedGen UID: 320273).

The HINT1 gene is associated with autosomal recessive neuromyotonia and axonal neuropathy (NMAN) (MedGen UID: 449355).

Synonym(s): HNRNPU-AS1; HNRPU; SAF-A; SAFA; U21.1; hnRNP U

The HNRNPU gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (PMID: 23934111, 24885232, 22975012, 22678713, 21800092) and autosomal dominant intellectual disability (PMID: 22678713, 25356899).

The HPCA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive torsion dystonia 2 (DYT2) (MedGen UID: 346511).

The HSPB1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) (MedGen UID: 335784) and distal hereditary motor neuropathy 2B (HMN2B) (MedGen UID: 382017).

The HSPB3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant distal hereditary motor neuropathy 2C (HMN2C) (MedGen UID: 461969).

The HSPB8 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) (MedGen UID: 324826) and distal hereditary motor neuropathy 2A (HMN2A) (MedGen UID: 322471).

Synonym(s): SPG13

The HSPD1 gene is associated with autosomal dominant Hereditary spastic paraplegia 13 (SPG13) (MedGen UID: 344289) and autosomal recessive hypomyelinating leukodystrophy 4 (HLD4), also known as MitCHAP-60 disease (Medgen UID: 383026).

I
Synonym(s): C1orf69; MMDS3; SPG74

The IBA57 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spastic paraplegia 74 (PMID: 25609768) and multiple mitochondrial dysfunctions syndrome 3 (PMID: 25971455, 23462291).

The IGHMBP2 gene is associated with autosomal recessive distal hereditary motor neuropathy 6, also known as spinal muscular atrophy with respiratory distress 1 (SMARD1) (MedGen UID: 388083) and Charcot-Marie-Tooth disease type 2S (CMT2S) (MedGen UID: 830572).

Synonym(s): DYS

The IKBKAP gene is associated with autosomal recessive familial dysautonomia, also known as hereditary sensory and autonomic neuropathy type 3 (HSAN3) (MedGen UID: 41678).

ILK

The ILK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 17646580).

The INF2 gene is associated with autosomal dominant focal segmental glomerulosclerosis (FSGS) (MedGen UID 413315) and dominant intermediate Charcot-Marie-Tooth disease type E (CMT-DIE) (MedGen UID 482475).

The ISPD gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A7 (MDDGA7) (MedGen UID: 766244) and type C7 (MDDGC7) (MedGen UID: 807556).

The ITGA7 gene is associated with autosomal recessive congenital muscular dystrophy due to integrin alpha-7 deficiency (MedGen UID: 413044).

J

The JPH2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462614).

JUP
Synonym(s): CTNNG

The JUP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 409749) and autosomal recessive Naxos disease (MedGen UID: 321991).

K
Synonym(s): CENP-36; KDVS; KIAA1267; MSL1v1; NSL1; hMSL1v1

The KANSL1 gene is associated with autosomal dominant Koolen-de Vries syndrome (MedGen UID: 355853).

The KBTBD13 gene is associated with autosomal dominant nemaline myopathy 6 (NEM6) (MedGen UID: 373095).

Synonym(s): ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1; LQT2; SQT1

The KCNH2 gene is associated with autosomal dominant long QT syndrome (LQTS), type 2 (MedGen UID: 462293), short QT syndrome (SQTS) (MedGen UID: 355891) and Brugada syndrome (BrS) (MedGen UID: 222975).

Synonym(s): EAG2; H-EAG2; Kv10.2; hEAG2

The KCNH5 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (PMID: 23647072).

Synonym(s): BIRK-10; KCNJ13-PEN; KIR1.2; KIR4.1; SESAME

The KCNJ10 gene is associated with autosomal recessive SeSAME syndrome (MedGen UID: 411243).

The KCNJ2 gene is associated with autosomal dominant Andersen-Tawil syndrome, also known as long QT syndrome (LQTS), type 7 (MedGen UID: 327586), short QT syndrome (SQTS) (MedGen UID: 400662), and catecholaminergic polymorphic ventricular tachycardia (CPVT) (PMID: 22589293). Additionally, the KCNJ2 gene has preliminary evidence supporting a correlation with autosomal dominant atrial fibrillation (MedGen UID: 462781).

Synonym(s): BFNC; EBN; EBN1; ENB1; HNSPC; KCNA11; KV7.2

The KCNQ2 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 342266) and early infantile epileptic encephalopathy (MedGen UID: 462336).

Synonym(s): BFNC2; EBN2; KV7.3

The KCNQ3 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 377707).

Synonym(s): EIEE14; ENFL5; KCa4.1; SLACK; Slo2.2; bA100C15.2

The KCNT1 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 767220) and early infantile epileptic encephalopathy (MedGen UID: 767109).

The KCTD17 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant myoclonic dystonia 26 (DYT26) (MedGen UID: 833970).

Synonym(s): CLN14; EPM3

The KCTD7 gene is associated with autosomal recessive progressive myoclonic epilepsy with or without intracellular inclusions (MedGen UID: 388595).

Synonym(s): SMCX; JARID1C; MRX13

The KDM5C gene is associated with X-linked intellectual disability, Claes-Jensen type (MedGen UID: 335139)

Synonym(s): SPG8

The KIAA0196 gene is associated with autosomal dominant hereditary spastic paraplegia 8 (SPG8) (MedGen UID: 400359) and autosomal recessive cranio-cerebello-cardiac (3C) syndrome, also known as Ritscher-Schinzel syndrome (MedGen UID: 163220).

Synonym(s): ATSV; C2orf20; HSN2C; MRD9; SPG30; UNC104

The KIF1A gene is associated with autosomal recessive hereditary sensory neuropathy type 2C (HSN2C) (MedGen UID: 481798) and autosomal recessive and dominant spastic paraplegia 30 (SPG30) (MedGen UID: 372152). The KIF1A gene is also associated with autosomal dominant intellectual disability 9 (ID9) (MedGen UID: 481913).

Synonym(s): CMT2A; CMT2

The KIF1B gene has preliminary evidence supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes (MedGen UID: 313270).

The KIF1C gene is associated with autosomal recessive hereditary spastic paraplegia (HSP) (MedGen UID: 370750).

Synonym(s): SPG10

The KIF5A gene is associated with autosomal dominant hereditary spastic paraplegia 10 (SPG10) (MedGen UID: 349003).

Synonym(s): KBTBD5

The KLHL40 gene is associated with autosomal recessive nemaline myopathy 8 (NEM8) (MedGen UID: 815539).

Synonym(s): KBTBD10

The KLHL41 gene is associated with autosomal recessive nemaline myopathy 9 (NEM9) (MedGen UID: 816714).

Synonym(s): IPOA8

The KPNA7 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal recessive infantile spasms (PMID: 24045845).

Synonym(s): CCM1; CAM

The KRIT1 gene is associated with autosomal dominant cerebral cavernous malformations (CCM) (MedGen UID: 349362).

L
Synonym(s): HSAS1; SPG1; HSAS; MASA; MIC5; S10

The L1CAM gene is associated with X-linked L1 Syndrome (MedGen UID: 798627), which includes a spectrum of conditions ranging from complicated hereditary spastic paraplegia 1 (SPG1) (MedGen UID: 162894), X-linked hydrocephalus syndrome (HSAS) (MedGen UID: 75552), MASA syndrome (OMIM: 303350) to X-linked complicated corpus callosum agenesis (MedGen UID: 374339). Other L1CAM-related conditions have been reported (OMIM: 308840).

Synonym(s): LAMM

The LAMA2 gene is associated with autosomal recessive LAMA2-related muscular dystrophy (MDC1A) (MedGen UID: 224728).

The LAMA4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 815265).

The LAMP2 gene is associated with X-linked Danon disease (MedGen UID: 209235).

The LARGE gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A6 (MDDGA6) (MedGen UID: 461764) and type B6 (MDDGB6) (MedGen UID: 373284).

Synonym(s): CMD1C; ZASP

The LDB3 gene is associated with autosomal dominant myofibrillar myopathy 4 (MFM4) (MedGen UID: 322840). Additionally, the LDB3 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880) and left ventricular noncompaction (LVNC) (MedGen UID: 349005).

Synonym(s): ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT; ETL1; IB1099

The LGI1 gene is associated with autosomal dominant lateral temporal lobe epilepsy (ADLTE) (MedGen UID: 325326).

Synonym(s): HGCLAS; HUSSY-01; LAS; LIP1; LS; PDHLD

The LIAS gene is associated with autosomal recessive pyruvate dehydrogenase complex deficiency (MedGen UID: 482517).

The LIMS2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive limb-girdle muscular dystrophy (PMID: 25589244).

Synonym(s): SIMPLE

The LITAF gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1C (CMT1C) (MedGen UID: 331363).

Synonym(s): LMN1; CMD1A; LGMD1B; PRO1; LMNL1

The LMNA gene is associated with a diverse group of disorders affecting skeletal and cardiac muscle including autosomal recessive and dominant Emery-Dreifuss muscular dystrophy type 2 (EDMD2) (MedGen UID: 98048) and type 3 (EDMD3) (MedGen UID: 413212), autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) (MedGen UID: 320400), congenital muscular dystrophy (MedGen UID: 413043), and dilated cardiomyopathy (DCM) (MedGen UID: 258500). It is also associated with autosomal recessive Charcot-Marie-Tooth disease type 2B1 (CMT2B1) (MedGen UID: 343064). Additional LMNA-related conditions have also been reported (OMIM: 150330).

The LMOD3 gene is associated with autosomal recessive nemaline myopathy 10 (NEM10) (MedGen UID: 830573).

The LRRC10 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 26017719).

The LRSAM1 gene is associated with autosomal recessive and dominant Charcot-Marie-Tooth disease type 2P (CMT2P) (MedGen UID: 482427).

M
MAG
Synonym(s): GMA; S-MAG; SIGLEC-4A; SIGLEC4A; SPG75

The MAG gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spastic paraplegia (PMID: 24482476, 26179919).

The MARS gene is associated with autosomal recessive interstitial lung and liver disease (ILLD) (MedGen UID: 815981). Additionally, the MARS gene has preliminary evidence supporting a correlation with autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) (PMID: 23729695).

Synonym(s): MPD2

The MATR3 gene is associated with autosomal dominant distal myopathy 2 (MPD2, also known as vocal cord and pharyngeal dysfunction with distal myopathy (MedGen UID: 342950). Additionally, the MATR3 gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 21 (ALS21) (PMID: 25771394, 26493020).

Synonym(s): MRD1

The MBD5 gene is associated with autosomal dominant intellectual disability (MedGen UID: 409857). Additionally, the MBD5 gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (ASD) (PMID: 23632792, 23055267).

Synonym(s): AUTSX3; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT

The MECP2 gene is associated with X-linked dominant Rett syndrome / atypical Rett syndrome (MedGen UID: 48441) and X-linked intellectual disability (MedGen UID: 337496).

Synonym(s): ARC240; CAGH45; FGS1; HOPA; MED12S; OHDOX; OKS; OPA1; TNRC11; TRAP230

The MED12 gene is associated with X-linked recessive Lujan-Fryns syndrome (LFS) (MedGen UID: 167096), Opitz-Kaveggia syndrome (OKS) (MedGen UID: 113106), and Ohdo syndrome (MedGen UID: 785805). Additionally, the MED12 gene has preliminary evidence supporting a correlation with X-linked recessive intellectual disability (ID) (PMID: 26273451, 25644381).

The MED25 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 2B2 (CMT2B2) (MedGen UID: 381352).

Synonym(s): C5DELq14.3; DEL5q14.3

The MEF2C gene is associated with autosomal dominant MEF2C-related intellectual disability (MedGen UID: 462050).

The MFN2 gene is associated with autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease type 2A2 (MedGen UID: 373098).

Synonym(s): CLN7; CCMD

The MFSD8 gene is associated with autosomal recessive forms of neuronal ceroid lipofuscinosis including late-infantile and juvenile CLN7 disease (MedGen UID 325457, PMID: 21990111).

The MORC2 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2Z) (MedGen UID: 851963).

MPZ
Synonym(s): CMT1; CMT1B

The MPZ gene is associated with autosomal dominant Charcot-Marie-Tooth disease types 1B (CMT1B) (MedGen UID: 124377), 2I (CMT2I) (MedGen UID: 334363), 2J (CMT2J) (MedGen UID: 375107), and dominant intermediate Charcot-Marie-Tooth disease (DI-CMTD) (MedGen UID: 334318).

The MTM1 gene is associated with X-linked centronuclear myopathy (XLCNM) (MedGen UID: 98374).

Synonym(s): CMT4B

The MTMR2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4B1 (CMT4B1) (MedGen UID: 321947).

The MTO1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency (MedGen UID: 766443).

Synonym(s): FRAP; FRAP1; FRAP2; RAFT1; RAPT1; SKS

The MTOR gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant familial focal epilepsy with variable foci (PMID: 26302787) and early infantile epileptic encephalopathy (PMID: 23934111).

The MUSK gene is associated with autosomal recessive congenital myasthenic syndrome 9 (CMS9) (MedGen UID: 833690) and fetal akinesia deformation sequence (FADS) (MedGen UID: 220903).

Synonym(s): CMH4

The MYBPC3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 350526), dilated cardiomyopathy (DCM) (MedGen UID: 2880), and left ventricular noncompaction cardiomyopathy (LVNC) (MedGen UID: 349005).

Synonym(s): Herculin

The MYF6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant centronuclear myopathy 3 (CNM3) (MedGen UID: 482333).

Synonym(s): ASD3; CMD1EE; CMH14; MYHC; MYHCA; SSS3; alpha-MHC

The MYH6 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant atrial septal defects (MedGen UID:371845), hypertrophic cardiomyopathy (HCM) (MedGen UID: 442484), and dilated cardiomyopathy (DCM) (MedGen UID: 412965). Additional MYH6-related conditions have been reported (OMIM: 160710).

Synonym(s): CMH1; MPD1

The MYH7 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195), dilated cardiomyopathy (DCM) (MedGen UID: 37831), left ventricular noncompaction (LVNC) (MedGen UID: 349005), and Laing distal myopathy (MPD1) (MedGen UID: 449370). It is also associated with autosomal dominant and recessive myosin storage myopathy (MSMA) (MedGen UID:374868). Additional MYH7-related conditions have also been reported (OMIM: 160760).

The MYL2 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 331754) and autosomal recessive early-onset MYL2-associated light chain myopathy (PMID: 23365102).

The MYL3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 324806).

The MYLK2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195).

The MYOM1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (PMID: 21256114).

Synonym(s): LGMD1; LGMD1A; TTID

The MYOT gene is associated autosomal dominant myofibrillar myopathy 3 (MFM3) (MedGen UID: 322957) and limb-girdle muscular dystrophy type 1A (LGMD1A) (MedGen UID: 331802). Other MYOT-related conditions have been reported (OMIM: 604103).

Synonym(s): C4orf5

The MYOZ2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462554).

The MYPN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 490120), hypertrophic cardiomyopathy (HCM) (OMIM: 615248), and restrictive cardiomyopathy RCM (OMIM: 615248).

N
Synonym(s): CAP43

The NDRG1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4D (CMT4D) (MedGen UID: 371304).

NEB
Synonym(s): NEM2

The NEB gene is associated with autosomal recessive nemaline myopathy 2 (NEM2) (MedGen UID: 342534).

The NEBL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 20951326).

Synonym(s): NEDD4-2; NEDD4.2; RSP5; hNEDD4-2

The NEDD4L gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (PMID: 23934111).

The NEFL gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) (MedGen UID: 375127) and type 1F (CMT1F) (MedGen UID: 334337). There is some evidence for recessive inheritance as well (PMID: 20039262).

The NEXN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 413929) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 462617).

NGF

The NGF gene is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 5 (HSAN5) (MedGen UID: 6916).

Synonym(s): CDDG; CDG1V; PNG1; PNGase

NGLY1 is associated with autosomal recessive NGLY1-congenital disorder of glycosylation (CDG-Iv) (MedGen UID 815321).

Synonym(s): EPM2A; EPM2B; MALIN; bA204B7.2

The NHLRC1 gene is associated with autosomal recessive progressive myoclonic epilepsy (Lafora disease) (MedGen UID: 155631).

Synonym(s): SPG6

The NIPA1 gene is associated with autosomal dominant hereditary spastic paraplegia 6 (SPG6) (MedGen UID: 324965).

Synonym(s): CHNG5; CSX; CSX1; HLHS2; NKX2.5; NKX2E; NKX4-1; VSD3

The NKX2-5 gene is associated with autosomal dominant tetralogy of Fallot (MedGen UID: 21498), conotruncal heart malformations (MedGen UID: 341803), hypoplastic left heart (MedGen UID: 482415), and atrial septal defect with or without atrioventricular conduction defects (MedGen UID: 400040). Additionally, the NKX2-5 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 23661673), atrial fibrillation (MedGen UID: 445), and congenital hypothyroidism (MedGen UID: 482425).

Synonym(s): HTX5

The NODAL gene is associated with autosomal dominant heterotaxy (MedGen UID: 501198). Additionally, the NODAL gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214; PMID: 19553149).

Synonym(s): ANP; PND

The NPPA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atrial fibrillation (MedGen UID: 394252) and autosomal recessive atrial dilated cardiomyopathy with atrial standstill (PMID: 23275345).

Synonym(s): Hs.22998; PTHSL2; SCZD17

The NRXN1 gene is associated with autosomal recessive idiopathic generalized epilepsy (PMID: 23294455, 25950944).

The NT5C2 gene is associated with autosomal recessive spastic paraplegia 45 (SPG45) (MedGen UID: 395641).

The NTRK1 gene is associated with autosomal recessive congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type 4 (HSAN4) (MedGen UID: 6915).

O
P
Synonym(s): parkin

The PARK2 gene is associated with autosomal recessive Parkinson disease 2 (PARK2) (MedGen UID: 401500).

Synonym(s): EFMR; EIEE9

The PCDH19 gene is associated with X-linked early infantile epileptic encephalopathy (MedGen UID: 338393). PCDH19-related EIEE appears to affect only heterozygous females while sparing obligate carrier males (PMID: 18469813).

Synonym(s): CCM3; TFAR15

The PDCD10 gene is associated with autosomal dominant cerebral cavernous malformations (MedGen UID: 355121).

The PDK3 gene is associated with X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) (MedGen UID: 813037).

The PDLIM3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 17254821), hypertrophic cardiomyopathy (HCM) (PMID: 20801532), and arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID: 11329061).

Synonym(s): Bst1; ISPD3024; MRT42; SPG67

The PGAP1 gene is associated with autosomal recessive intellectual disability (MedGen UID: 777028). Additionally, the PGA1 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 24482476).

The PKP2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 373205), Brugada syndrome (PMID: 24352520) and dilated cardiomyopathy (DCM) (PMID: 20716751).

Synonym(s): CaI-PLA2; GVI; INAD1; IPLA2-VIA; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9; iPLA2; iPLA2beta

The PLA2G6 gene is associated with autosomal recessive neuroaxonal dystrophy (MedGen UID: 82852), dystonia-parkinsonism (MedGen UID: 414488) and autosomal recessive neurodegeneration with brain iron accumulation (NBIA) (MedGen UID: 448017).

Synonym(s): EIEE12; PI-PLC; PLC-154; PLC-I; PLC-beta-1; PLC154; PLCB1A; PLCB1B

The PLCB1 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 462338).

Synonym(s): EBS1; PLEC1

The PLEC gene is associated with autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBSMD) (MedGen UID: 347335), epidermolysis bullosa simplex with pyloric atresia (EBSPA) (MedGen UID: 436922), epidermolysis bullosa simplex with myasthenic syndrome (EBSMS) (PMID: 21263134), and limb-girdle muscular dystrophy type 2Q (LGMD2Q) (MedGen UID: 462339). It is also associated with autosomal dominant epidermolysis bullosa simplex, Ogna type (EBSOG) (MedGen UID: 98488).

The PLEKHG5 gene is associated with autosomal recessive intermediate Charcot-Marie-Tooth disease type C (CMTRIC) (MedGen UID: 815639) and distal hereditary motor neuropathy, also known as distal spinal muscular atrophy 4 (DSMA4) (MedGen UID: 369682).

Synonym(s): KIAA0842; SKIP

The PLEKHM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dilated cardiomyopathy and left ventricular noncompaction (PMID: 26464484).

PLN
Synonym(s): PLB

The PLN gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 322782), hypertrophic cardiomyopathy (HCM) (MedGen UID: 462615), and arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID: 22820313).

Synonym(s): SPG2; PLP

The PLP1 gene is associated with a spectrum of X-linked conditions, ranging from X-linked hereditary spastic paraplegia 2 (SPG2) (MedGen UID: 374177) to Pelizaeus-Merzbacher disease (PMD) (MedGen UID: 61440).

Pathogenic variants in the PMP22 gene are associated with autosomal dominant Charcot-Marie-Tooth disease type 1A (CMT1A) (MedGen UID: 75727) and 1E (CMT1E) (MedGen UID: 348419) as well as autosomal dominant hereditary neuropathy with liability to pressure palsies (HNPP) (MedGen UID: 98291).

Synonym(s): BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1; MR1; PDC; PKND1; TAHCCP2

The PNKD gene is associated with autosomal dominant familial paroxysmal nonkinesigenic dyskinesia (PNKD) (MedGen UID: 401504).

Synonym(s): AOA4; EIEE10; MCSZ; PNK

The PNKP gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 462017) and ataxia with oculomotor apraxia (PMID:25728773).

The PNPLA2 gene is associated with autosomal recessive neutral lipid storage disease with myopathy (NLSDM) (MedGen UID: 339913).

The PNPLA6 gene is associated with a spectrum of autosomal recessive neurological conditions, including hereditary spastic paraplegia 39 (SPG39) (MedGen UID: 383142), Boucher-Neuhauser syndrome (BNHS) (MedGen UID: 347798), Oliver-McFarlane syndrome (OMCS) (MedGen UID: 338532), and Lawrence-Moon syndrome (LNMS) (MedGen UID: 44078).

Synonym(s): HEL-S-302; PDXPO

The PNPO gene is associated with autosomal recessive pyridoxal 5’-phosphate-dependent epilepsy (MedGen UID: 350498).

Synonym(s): MDP1; MIRAS; MTDPS4A; MTDPS4B; PEO; POLG1; POLGA; SANDO; SCAE

The POLG gene is associated with a spectrum of related autosomal recessive conditions (MedGen UID: 60012) including mitochondrial DNA depletion syndrome 4A (Alpers type; MTDPS4A), mitochondrial DNA depletion syndrome 4B (MNGIE type; MTDPS4B), sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), spinocerebellar ataxia with epilepsy (SCAE), and progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOB1). In addition, the POLG gene is associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1)(MedGen UID: 371919).

Synonym(s): MEB

The POMGNT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A3 (MDDGA3) (MedGen UID: 462869), type B3 (MDDGB3) (MedGen UID: 461762) and type C3 (MDDGC3) (MedGen UID: 461767).

Synonym(s): C3orf39; GTDC2

The POMGNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A8 (MDDGA8) (MedGen UID: 766727).

Synonym(s): SGK196

The POMK gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A12 (MDDGA12) (MedGen UID: 815294) and type C12 (MDDGC12) (MedGen UID: 808099).

Synonym(s): RT; LGMD2K; MDDGA1; MDDGB1; MDDGC1

The POMT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A1 (MDDGA1) (MedGen UID: 75553), type B1 (MDDGB1) (MedGen UID: 461765) and type C1 (MDDGC1) (MedGen UID: 332193).

Synonym(s): LGMD2N; MDDGA2; MDDGB2; MDDGC2

The POMT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A2 (MDDGA2) (MedGen UID: 461761), type B2 (MDDGB2) (MedGen UID: 461766) and type C2 (MDDGC2) (MedGen UID: 461768).

Synonym(s): CLN1; INCL; PPT

The PPT1 gene is associated with autosomal recessive forms of neuronal ceroid lipofuscinosis including classic infantile, late-infantile, juvenile and adult CLN1 disease. [MedGen UID: 340540]

The PRDM16 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (LVNC) (MedGen UID: 349005) and dilated cardiomyopathy (DCM) (OMIM: 615373).

The PREPL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome (CMS) (PMID: 24610330).

Synonym(s): EPM1B; RILP

The PRICKLE1 gene is associated with autosomal recessive progressive myoclonic epilepsy with ataxia (MedGen UID: 394003).

The PRKAG2 gene is associated with autosomal dominant glycogen storage related Wolff-Parkinson-White syndrome (MedGen UID: 12162) with or without hypertrophic cardiomyopathy (HCM) (MedGen UID: 331466).

The PRKRA gene is associated with autosomal recessive dystonia 16 (DYT16) (MedGen UID: 436979).

Synonym(s): DFN2

The PRPS1 gene is associated with X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) (MedGen UID: 374254).

Synonym(s): BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA; ICCA; IFITMD1; PKC

The PRRT2 gene is associated with a spectrum of related autosomal dominant neurological conditions (MedGen UID: 358268) including episodic kinesigenic dyskinesia 1 (EKD1), benign familial infantile seizures 2 (BFIS2), and familial infantile convulsions with paroxysmal choreoathetosis (ICCA).

PRX

The PRX gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4F (CMT4F) (MedGen UID: 761704).

Synonym(s): BCNS; HPE7; NBCCS; PTC; PTC1; PTCH; PTCH11

The PTCH1 gene is associated with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome (MedGen UID: 2554). Additionally, the PTCH1 gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (HPE) (MedGen: 372134).

Q
Synonym(s): GLNRS; MSCCA; PRO2195

The QARS gene is associated with autosomal recessive progressive microcephaly with seizures and cerebral and cerebellar atrophy (MedGen UID: 776944).

R

The RAB3GAP2 gene is associated with autosomal recessive Warburg micro syndrome 2 (WARBM2) (MedGen UID: 481844) and Martsolf syndrome (MedGen UID: 208658). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (HSP) (PMID: 24482476).

Synonym(s): RAB7

The RAB7A gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) (MedGen UID: 371512).

Synonym(s): CMD1NN; CRAF; NS5; Raf-1; c-Raf

The RAF1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 370589), Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 370588), and dilated cardiomyopathy (MedGen UID: 807537).

The RAPSN gene is associated with autosomal recessive congenital myasthenic syndrome 11 (CMS11) (MedGen UID: 323066) and fetal akinesia deformation sequence (FADS) (MedGen UID: 220903).

Synonym(s): 2BP1; A2BP1; FOX-1; FOX1; HRNBP1

The RBFOX1 gene is associated with autosomal dominant idiopathic generalized epilepsy (PMID: 23350840, 24039908, 25950944, 26174448).

Synonym(s): FOX-3; FOX3; HRNBP3; NEUN

The RBFOX3 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 24603971, 24039908).

The RBM20 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 416441).

Synonym(s): C2orf23

The REEP1 gene is associated with autosomal dominant hereditary spastic paraplegia 31 (SPG31) (MedGen UID: 377858) and distal hereditary motor neuropathy 5B (HMN5B) (MedGen UID: 766570).

The REEP2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive and autosomal dominant hereditary spastic paraplegia 72 (SPG72) (PMID: 24388663).

Synonym(s): ETL7; LIS2; PRO1598; RL

The RELN gene is associated with autosomal recessive lissencephaly (MedGen UID: 163213).

Synonym(s): KTZS

The ROGDI gene is associated with autosomal recessive Kohlschutter’s syndrome (MedGen UID: 98036).

Synonym(s): SPG12

The RTN2 gene is associated with autosomal dominant hereditary spastic paraplegia 12 (MedGen UID: 347618).

Synonym(s): MHS; MHS1; CCO

The RYR1 gene is associated with autosomal recessive and dominant central core disease (CCD) (MedGen UID: 199773) and autosomal recessive congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177) and multiminicore disease (MmD) (MedGen UID: 388775). It is also associated with autosomal dominant centronuclear myopathy (CNM) (MedGen UID: 799613) and malignant hyperthermia susceptibility type 1 (MHS1) (MedGen UID: 833963).

Synonym(s): ARVD2

The RYR2 gene is associated with autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) (MedGen UID: 351513), arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 318748) and left ventricular noncompaction (LVNC) (PMID: 24394973).

S

The SACS gene is associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (MedGen UID: 338620).

Synonym(s): GLSS

The SATB2 gene is associated with autosomal dominant Glass syndrome (MedGen UID: 436765).

Synonym(s): CMT4B2

The SBF2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4B2 (CMT4B2) (MedGen UID: 346869).

Synonym(s): AMRF; CD36L2; EPM4; HLGP85; LGP85; LIMP-2; LIMPII; SR-BII

The SCARB2 gene is associated with autosomal recessive progressive myoclonic epilepsy, with or without renal failure (MedGen UID: 155629).

The SCN10A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant small fiber neuropathy (SFNP) (PMID: 23986244) and Brugada syndrome (BrS) (PMID: 24998131).

The SCN11A gene is associated with autosomal dominant hereditary sensory and autonomic neuropathy type 7 (HSAN7) (MedGen UID: 816212) and familial episodic pain syndrome type 3 (FEPS3) (MedGen UID: 816229).

Synonym(s): EIEE6; FEB3; FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI

The SCN1A gene is associated with a spectrum of autosomal dominant SCN1A-related seizure disorders ranging from simple febrile seizures (MedGen UID: 338959) and generalized epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 388117) to Dravet syndrome (MedGen UID: 148243) and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) (MedGen UID: 148243). Other SCN1A-related conditions have been reported (OMIM: 607208).

Synonym(s): ATFB13; BRGDA5; GEFSP1

The SCN1B gene is associated with autosomal dominant generalized epilepsy with febrile seizures (MedGen UID: 348994). Additionally, the SCN1B gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 411607), atrial fibrillation (MedGen UID: 334469), cardiac conduction disease (PMID: 18464934) and autosomal recessive early infantile epileptic encephalopathy (PMID: 19710327).

Synonym(s): BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; NAC2; Na(v)1.2; Nav1.2; SCN2A1; SCN2A2

The SCN2A gene is associated with autosomal dominant benign familial neonatal-infantile seizures (BFNIS) (MedGen UID: 375105), early infantile epileptic encephalopathy (EIEE) (MedGen UID: 462337), intellectual disability (ID)(PMID: 23020937) and autism spectrum disorder (ASD)(PMID: 22495306).

Synonym(s): NAC3; Nav1.3

The SCN3A gene is associated with autosomal dominant childhood onset epilepsy (PMID: 18242854, 24157691).

Synonym(s): HYKPP

The SCN4A gene is associated with autosomal dominant hyperkalemic periodic paralysis (HYPP) (MedGen UID: 442147), hypokalemic periodic paralysis (HOKPP) (MedGen UID: 811387), and paramyotonia congenita (PMC) (MedGen UID: 358367). Additionally, the SCN4A gene has preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome 16 (CMS16) (OMIM: 614198). Other SCN4A-related conditions have also been reported (OMIM: 603967).

Synonym(s): CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1; ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1

The SCN5A gene is associated with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 468523), long QT syndrome (LQTS), type 3 (MedGen UID: 349087), dilated cardiomyopathy (DCM) (MedGen UID: 331341) and atrial fibrillation (MedGen UID: 462814). Other SCN5A-related conditions have been reported (OMIM: 600163).

Synonym(s): BFIS5; CERIII; CIAT; EIEE13; MED; NaCh6; Nav1.6; PN4

The SCN8A gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 482821).

Synonym(s): ETHA; FEB3B; GEFSP7; HSAN2D; NE-NA; NENA; Nav1.7; PN1; SFNP

The SCN9A gene is associated with autosomal dominant generalized epilepsy with febrile seizures plus (MedGen UID: 416629) and primary erythermalgia, also referred to as small fiber neuropathy (MedGen UID: 8688). The SCN9A gene is also associated with autosomal recessive congenital insensitivity to pain (CIP), also referred to as hereditary sensory and autonomic neuropathy type 2D (HSAN2D) (MedGen UID: 344563). Other SCN9A-related conditions have also been reported (OMIM: 60345).

Synonym(s): CMD1GG; FP; PGL5; SDH1; SDH2; SDHF

The SDHA gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 481622), gastrointestinal stromal tumors (GIST) (PMID: 21505157, 22974104, 23060355), and autosomal recessive mitochondrial complex II deficiency with or without cardiomyopathy (MedGen UID: 344401).

Synonym(s): M-SEMAH; M-SemaK; SEMAH; coll-5

The SEMA3E gene has limited evidence supporting a correlation with autosomal dominant CHARGE syndrome (MedGen UID: 75567).

Synonym(s): MDRS1; RSMD1

The SEPN1 gene is associated with autosomal recessive multiminicore disease (MmD) (MedGen UID: 388775) and autosomal recessive congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177).

Synonym(s): ADL

The SGCA gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) (MedGen UID: 334108).

Synonym(s): LGMD2E

The SGCB gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2E (LGMD2E) (MedGen UID: 347674).

Synonym(s): SGD; DAGD; 35DAG; CMD1L; SGCDP; SG-delta

The SGCD gene is associated with autosomal recessive Limb-Girdle Muscular Dystrophy type 2F (LGMD2F) (MedGen UID: 331308). Additionally, the SGCD gene has preliminary evidence supporting a correlation with isolated autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 335735).

Synonym(s): DYT11; ESG

The SGCE gene is associated with autosomal dominant myoclonic dystonia (DYT11) (MedGen UID: 331778). Additionally, the SGCE gene has preliminary evidence supporting a correlation with autosomal dominant generalized epilepsy (PMID: 15389977, 24297365).

Synonym(s): DMDA1; MAM; LGMD2C

The SGCG gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) (MedGen UID: 98045).

Synonym(s): CMT4C

The SH3TC2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4C (CMT4C) (MedGen UID: 356581).

SHH
Synonym(s): HHG1; HLP3; HPE3; MCOPCB5; SMMCI; TPT; TPTPS

The SHH gene is associated with autosomal dominant holoprosencephaly (HPE) (MedGen UID: 327125). Additionally, the SHH gene has preliminary evidence supporting a correlation with autosomal dominant isolated ocular anomalies (PMID: 12503095, 20425842).

Synonym(s): HPE2

The SIX3 gene is associated with autosomal dominant holoprosencephaly (HPE) (MedGen UID: 322517).

Synonym(s): DXS128; AHDS; MRX22

The SLC16A2 gene is associated with X-linked MCT8-specific thyroid hormone cell transporter deficiency, also known as SPG22 and Allan-Herndon-Dudley syndrome (AHDS) (MedGen UID: 208645).

Synonym(s): CDSP

The SLC22A5 gene is associated with autosomal recessive primary carnitine deficiency (MedGen UID: 90999).

Synonym(s): AGC1; ARALAR; EIEE39

The SLC25A12 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy (PMID: 19641205, 24515575).

Synonym(s): EIEE3; GC-1; GC1; NET44

The SLC25A22 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGenUID: 124373).

Synonym(s): HMSN6B

The SLC25A46 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary motor and sensory neuropathy type VIB (PMID: 26168012).

Synonym(s): CSE; DYT17; DYT18; DYT9; EIG12; GLUT; GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN

The SLC2A1 gene is associated with autosomal dominant glucose transporter type 1 (GLUT1) deficiency syndrome (PMID: 19304421, 15132717, 23443458).

Synonym(s): ACATN; SPG42

The SLC33A1 gene has preliminary evidence supporting a correlation with autosomal dominant hereditary spastic paraplegia 42 (SPG42) (MedGen UID: 393407). Other SLC33A1-related conditions have been reported (MedGen UID: 482595).

Synonym(s): CDG2M; CDGX; UDP-Gal-Tr; UGALT; UGAT; UGT; UGT1; UGT2; UGTL

The SLC35A2 gene is associated with the X-linked dominant congenital disorder of glycosylation SLC35A2-CDG (CDG-IIm) (MedGen UID 813018).

The SLC52A2 gene is associated with autosomal recessive Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) (MedGen UID: 766452).

The SLC52A3 gene is associated with autosomal recessive Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) (MedGen UID: 881160, 140728).

The SLC5A7 gene is associated with autosomal dominant distal hereditary motor neuropathy 7 (HMN7A) (MedGen UID: 322474).

Synonym(s): DAT1

The SLC6A3 gene is associated with autosomal recessive infantile parkinsonism-dystonia (PKDYS) (MedGen UID: 413468).

Synonym(s): Creatinine transporter; CT1; CRTR; CRT; Solute Carrier Family 6 Member 8; Sodium- And Chloride-Dependent Creatine Transporter 1; Creatine Transporter SLC6A8; CCDS1; CTR5

The SLC6A8 gene is associated with X-linked recessive creatine transporter deficiency (CTD) (MedGen UID: 337451).

Synonym(s): MRSA; NHE6

The SLC9A6 gene is associated with X-linked dominant Angelman-like syndrome (MedGen UID: 394455).

Synonym(s): SPG4

The SPAST gene is associated with autosomal dominant hereditary spastic paraplegia 4 (SPG4) (MedGen UID: 401097).

Synonym(s): KIAA1840

The SPG11 gene is associated with autosomal recessive hereditary spastic paraplegia 11 (SPG11) (MedGen UID: 388073), juvenile amyotrophic lateral sclerosis 5 (ALS5) (PMID: 22154821) and Charcot-Marie-Tooth disease, type 2X (CMT2X) (MedGen UID: 851872).

The SPG20 gene is associated with autosomal recessive hereditary spastic paraplegia 20 (SPG20), also known as Troyer syndrome (MedGen UID: 97950).

Synonym(s): ACP33

The SPG21 gene (also known as ACP33), is associated with autosomal recessive hereditary spastic paraplegia 21, also known as Mast syndrome (SPG21) (MedGen UID: 343325).

Synonym(s): CMAR

The SPG7 gene is associated with autosomal recessive hereditary spastic paraplegia 7 (SPG7) (MedGen UID: 339552).

SPR

The SPR gene is associated with autosomal recessive sepiapterin reductase deficiency (MedGen UID: 120642).

Synonym(s): EIEE5; NEAS; SPTA2

The SPTAN1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 462081).

The SPTLC1 gene is associated with autosomal dominant hereditary sensory and autonomic neuropathy type 1A (HSAN1A) (MedGen UID: 5645).

The SPTLC2 gene is associated with autosomal dominant hereditary sensory and autonomic neuropathy type 1C (HSAN1C) (MedGen UID: 462246).

Synonym(s): BPP; CBPS; PMGX; RESDX; SRPUL

The SRPX2 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with X-linked dominant rolandic epilepsy with intellectual disability and speech dyspraxia (PMID: 24995671, 16497722).

Synonym(s): EIEE15; MRT12; SIAT6; ST3GALII; ST3GalIII; ST3N

The ST3GAL3 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 767230).

Synonym(s): SATI; SIAT9; SIATGM3S; ST3GalV

The ST3GAL5 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal recessive Amish infantile epilepsy syndrome (MedGen UID: 323005).

The STAC3 gene is associated with autosomal recessive Native American myopathy (NAM) (MedGen UID: 340586).

Synonym(s): MUNC18-1; NSEC1; P67; RBSEC1; UNC18

The STXBP1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 436917).

The SURF1 gene is associated with autosomal recessive Leigh syndrome due to Complex IV deficiency (MedGen UID: 44095). Additionally, the SURF1 gene has preliminary evidence supporting a correlation with autosomal recessive Charcot-Marie-Tooth disease, type 4K (CMT4K) (PMID: 24027061).

Synonym(s): SYN1a; SYN1b; SYNI

The SYN1 gene is associated with X-linked epilepsy with variable learning disabilities and behavior disorders (MedGen UID: 337214).

Synonym(s): C6orf98

The SYNE1 gene is associated with autosomal recessive spinocerebellar ataxia type 8 (SCAR8) (MedGen UID: 343973). Additionally, the SYNE1 gene has preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) type 4 (EDMD4) (MedGen UID: 414476).

The SYNE2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy type 5 (EDMD5) (MedGen UID: 414111).

Synonym(s): MRD5; RASA1; RASA5; SYNGAP

The SYNGAP1 gene is associated with autosomal dominant intellectual disability (MedGen UID: 382611).

Synonym(s): C1orf84; EIEE18; KIAA0467; SZT2A; SZT2B

The SZT2 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 815954) and autosomal recessive intellectual disability (PMID: 24324832).

T
TAZ
Synonym(s): CMD3A; EFE2; EFE

The TAZ gene is associated with X-linked 3-methylglutaconic aciduria, also known as Barth syndrome (MedGen UID: 107893), and dilated cardiomyopathy (DCM) (MedGen UID: 2880).

Synonym(s): DFNA65; DFNB86; DOORS; EIEE16; FIME; TLDC6

The TBC1D24 gene is associated with a spectrum of related conditions including autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 815503), DOORS syndrome (PMID: 25169651), familial infantile myoclonic epilepsy (PMID: 25769375), progressive myoclonic epilepsy (PMID: 25401298), as well as autosomal recessive and autosomal dominant nonsyndromic hearing loss (MedGen UID: 468960 and 807620, respectively).

Synonym(s): TELE; CMD1N; T-cap; LGMD2G; telethonin

The TCAP gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649). The TCAP gene is also associated with autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) (MedGen UID: 400895).

Synonym(s): E2-2; FECD3; ITF-2; ITF2; PTHS; SEF-2; SEF2; SEF2-1; SEF2-1A; SEF2-1B; SEF2-1D; TCF-4; bHLHb19

The TCF4 gene is associated with autosomal dominant Pitt-Hopkins syndrome (MedGen UID: 370910).

Synonym(s): KIAA0329

The TECPR2 gene is associated with autosomal recessive hereditary spastic paraplegia 49 (SPG49) (MedGen UID: 762260).

TFG

The TFG gene is associated with autosomal dominant hereditary motor and sensory neuropathy, Okinawa type (HMSNO) (MedGen UID: 346886). Additionally, the TFG gene has preliminary evidence supporting a correlation with autosomal dominant Charcot-Marie-Tooth disease, type 2 (CMT2) (PMID: 25098539) and autosomal recessive hereditary spastic paraplegia 57 (SPG57) (MedGen UID: 811490; PMID: 23479643).

Synonym(s): ARVD1; ARVD

The TGFB3 gene is associated with autosomal dominant Rienhoff syndrome (MedGen UID: 816342) and arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 349530).

Synonym(s): HPE4; TGIF

The TGIF1 gene is associated with autosomal dominant holoprosencephaly (HPE) (MedGen UID: 374488).

TH

The TH gene is associated with autosomal recessive tyrosine hydroxylase deficiency (MedGen UID: 343087).

Synonym(s): DYT6

The THAP1 gene is associated with autosomal dominant torsion dystonia 6 (DYT6) (MedGen UID: 236274).

The TIA1 gene is associated with autosomal dominant and recessive Welander distal myopathy (WDM) (MedGen UID: 67441).

The TMEM43 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (MedGen UID: 346805). Additionally, the TMEM43 gene has preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy type 7 (EDMD7) (MedGen UID: 765974).

The TMEM5 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A10 (MDDGA10) (MedGen UID: 767295).

The TMEM70 gene is associated with autosomal recessive ATP synthase deficiency (MedGen UID: 481329).

The TMPO gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880).

Synonym(s): TNNC

The TNNC1 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649) and dilated cardiomyopathy (DCM) (MedGen UID: 395631).

Synonym(s): CMD2A

The TNNI3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649), dilated cardiomyopathy (DCM) (MedGen UID: 2880), and restrictive cardiomyopathy (RCM) (MedGen UID: 396236).

The TNNT1 gene is associated with autosomal recessive nemaline myopathy 5 (NEM5) (MedGen UID: 344273).

Synonym(s): CMH2; CMD1D

The TNNT2 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649), dilated cardiomyopathy (DCM) (MedGen UID: 2880), restrictive cardiomyopathy (RCM) (MedGen UID: 382807), and left ventricular noncompaction cardiomyopathy (LVNC) (MedGen UID: 349005).

Synonym(s): LGMD1F

The TNPO3 gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) (MedGen UID: 333983).

Synonym(s): DYT1

The TOR1A gene is associated with autosomal dominant dystonia 1 (DYT1) (MedGen UID: 338823).

The TOR1AIP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dystonia, cerebellar atrophy and cardiomyopathy (PMID: 25425325), and limb-girdle muscular dystrophy (PMID: 24856141).

Synonym(s): C15orf13; CMH3

The TPM1 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649), dilated cardiomyopathy (DCM) (MedGen UID: 2880), and left ventricular noncompaction cardiomyopathy (LVNC) (MedGen UID: 349005).

Synonym(s): AMCD1

The TPM2 gene is associated with autosomal dominant nemaline myopathy 4 (NEM4) (MedGen UID: 324513) and congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177). Other TPM2-related conditions have been reported (OMIM: 190990).

Synonym(s): NEM1

The TPM3 gene is associated with autosomal dominant and recessive nemaline myopathy 1 (NEM1) (MedGen UID: 373089) and congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177).

Synonym(s): C4orf41; LGMD2S

The TRAPPC11 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) (MedGen UID: 815566).

The TRIM2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease, type 2R (CMT2R) (MedGen UID: 815985).

Synonym(s): LGMD2H; BBS11; HT2A; TATIP

The TRIM32 gene is associated with autosomal recessive Bardet-Biedl syndrome (BBS)(MedGen UID: 395295) and limb-girdle muscular dystrophy type 2H (LGMD2H) (MedGen UID:78750). Additionally, the TRIM32 gene has preliminary evidence supporting a correlation with autosomal recessive neurodegeneration with brain iron accumulation (PMID: 26586575).

The TRPV4 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) disease (MedGen UID: 389170), scapuloperoneal spinal muscular atrophy (SPSMA) (MedGen UID: 148283) and distal hereditary motor neuropathy 8, also known as distal spinal muscular atrophy (HMN8) (MedGen UID: 373984). The TRPV4 gene is also associated with several types of autosomal dominant skeletal dysplasias (OMIM: 605427).

Synonym(s): LAM; TSC

The TSC1 gene is associated with autosomal dominant tuberous sclerosis complex (TSC) (MedGen UID: 344288).

Synonym(s): LAM; PPP1R160; TSC4

The TSC2 gene is associated with autosomal dominant tuberous sclerosis complex (TSC) (MedGen UID: 348170).

TTN
Synonym(s): TMD; CMH9; CMD1G; CMPD4; EOMFC; HMERF; MYLK5; LGMD2J

The TTN gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880). Additionally, the TTN gene is associated with a diverse group of disorders affecting skeletal muscles, including autosomal dominant tibial muscular dystrophy (TMD) (MedGen UID: 333047) and autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) (MedGen UID: 324741), autosomal recessive centronuclear myopathy (PMID: 23975875), and autosomal dominant hereditary myopathy with early respiratory failure (HMERF) (MedGen UID: 350930). Additional TTN-related conditions have also been reported (OMIM: 188840).

TTR
Synonym(s): PALB; CTS1

The TTR gene is associated with autosomal dominant transthyretin amyloidosis (MedGen UID: 414031).

Synonym(s): DYT4; TUBB4

The TUBB4A gene is associated with a spectrum of autosomal dominant conditions, including dystonia 4 (DYT4) (MedGen UID: 436642) and hypomyelinating leukodystrophy 6 (HLD6) (MedGen UID: 436642).

The TXNRD2 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 21247928).

U
Synonym(s): UBE1

The UBA1 gene is associated with X-linked spinal muscular atrophy 2 (SMAX2) (MedGen UID: 337123).

Synonym(s): ANCR; AS; E6-AP; EPVE6AP; HPVE6A

The UBE3A gene is associated with autosomal dominant Angelman syndrome (MedGen UID: 58144).

Synonym(s): UBPY; SPG59

The USP8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 59 (SPG59) (PMID: 24482476 ).

V
Synonym(s): SYB1

The VAMP1 gene is associated with autosomal dominant hereditary spastic ataxia 1 (SPAX1) (MedGen UID: 409988).

VCL

The VCL gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649).

VCP

The VCP gene is associated with autosomal dominant inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD1) (MedGen UID: 322251). Additionally, the VCP gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14) (MedGen UID: 462753).

Synonym(s): PQBP2

The VPS37A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Hereditary spastic paraplegia 53 (SPG53) (MedGen UID: 761340).

The VRK1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spinal muscular atrophy with or without pontocerebellar hypoplasia (PCH1A) (PMID: 19646678, 27281532; MedGen UID: 335969).

W
Synonym(s): WNK1 (previously named HSN2; a gene symbol that is now retired).

The WNK1 gene is associated with autosomal recessive hereditary autonomic and sensory neuropathy type 2A (HSAN2A) (MedGen UID: 416701) and autosomal dominant pseudohypoaldosteronism type 2C (PHA2C) (MedGen UID: 327089).

Synonym(s): D16S432E; EIEE28; FOR; FRA16D; HHCMA56; PRO0128; SCAR12; SDR41C1; WOX1

The WWOX gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 830739) and spinocerebellar ataxia (MedGen UID: 482082).

X
Y

The YARS gene is associated with dominant intermediate Charcot-Marie-Tooth disease (CMTDIC) (MedGen UID: 334023).

Z
Synonym(s): HSPC082; SIP-1; SIP1; SMADIP1; ZFHX1B

The ZEB2 gene is associated with autosomal dominant Mowat-Wilson syndrome (MedGen UID: 341067).