New York Approved
Pediatric Genetics

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. 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: Pediatric and Rare Disease

1 gene

Invitae Oral-Facial-Digital Syndrome Type 1 Test

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Genetic testing for the OFD1 gene, which is associated with oral-facial-digital syndrome type 1 (OFD1).

GENES TESTED:

OFD1

2 genes

Invitae Polycystic Kidney Disease Type 2 Panel

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Genetic testing for 2 genes associated with polycystic kidney disease, type 2 (PKD). PKD can be inherited as dominant (ADPKD) or recessive (ARPKD) and is characterized by end stage renal disease.

GENES TESTED:

PKD2 PKHD1

5 genes

Invitae Chronic Pancreatitis Panel

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Chronic pancreatitis is characterized by persistent inflammation of the pancreas, acute and recurrent pain, maldigestion, and eventually diabetes mellitus.

GENES TESTED:

CASR CFTR CTRC PRSS1 SPINK1

CFTR: Analysis includes the intronic variants: NM_000492.3:c.3718-2477C>T (also known as 3849+10kbC>T), c.1210-34TG[12]T[5] (also known as T5TG12), c.1210-34TG[11]T[5] (also known as T5TG11), and c.1679+1634A>G.

up to 5 genes

Invitae Cystic Fibrosis Test

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This test analyzes CFTR, the primary gene associated with cystic fibrosis (CF), congenital absence of the vas deferens (CAVD), and CF-related disorders.

GENES TESTED:

Primary Panel:
CFTR

CFTR: Analysis includes the intronic variants: NM_000492.3:c.3718-2477C>T (also known as 3849+10kbC>T), c.1210-34TG[12]T[5] (also known as T5TG12), c.1210-34TG[11]T[5] (also known as T5TG11), and c.1679+1634A>G.

Add-on chronic pancreatitis genes:
CASR CTRC PRSS1 SPINK1

CFTR is also associated with an increased risk of chronic pancreatitis (CP), a condition that results in irreversible morphological changes and impairment of both exocrine and endocrine functions. If clinically indicated, clinicians can include additional genes associated with chronic pancreatitis at no additional charge.

1 gene

Invitae Alpha Thalassemia X-linked Intellectual Disability Test

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Genetic testing for the ATRX gene, which is associated with alpha thalassemia X-linked intellectual disability syndrome.

GENES TESTED:

ATRX

1 gene

Invitae CASR-Related Conditions Test

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Genetic testing for the CASR gene, which is associated with benign familial hypocalciuric hypercalcemia (BFHH), neonatal severe hyperparathyroidism (NSHPT), familial isolated hyperparathyroidism (FIHP), and autosomal dominant hypocalcemia (ADH).

GENES TESTED:

CASR

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

1 gene

Invitae MED12-Related Disorders Test

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Genetic testing for the MED12 gene which is associated with a spectrum of developmental disorders which are characterized by hypotonia, abnormalities of the corpus callosum, intellectual disability and behavioral problems.

GENES TESTED:

MED12

1 gene

Invitae Oculo-Facio-Cardio-Dental Syndrome Test

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Genetic testing for BCOR, the primary gene associated with oculo-facio-cardio-dental (OFCD) syndrome and Lenz microphthalmia (LMS).

GENES TESTED:

BCOR

1 gene

Invitae PTEN-Related Disorders Test

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Genetic testing for PTEN pathogenic variants that are associated with PTEN hamartoma tumor syndrome and PTEN-related autism spectrum disorder.

GENES TESTED:

PTEN

PTEN: Deletion/duplication analysis covers the promoter region.

1 gene

Invitae Simpson-Golabi-Behmel Syndrome Test

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Genetic testing for the gene GPC3, which is associated with Simpson-Golabi-Behmel syndrome (SGBS1), an overgrowth condition with distinctive facies and risk for embryonal tumors.

GENES TESTED:

GPC3

1 gene

Invitae Sotos Syndrome Test

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Genetic testing for NSD1, the primary gene associated with Sotos syndrome; characterized by distinct facial features, excessive growth during childhood, macrocephaly, and mild-to-severe learning disability.

GENES TESTED:

NSD1

1 gene

Invitae von Hippel-Lindau Syndrome Test

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Genetic testing for VHL which is associated with von Hippel-Lindau syndrome (VHL).

GENES TESTED:

VHL

1 gene

Invitae Weaver Syndrome Test

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Genetic testing for the EZH2 gene, which is associated with Weaver syndrome—an overgrowth condition with distinctive facies, skeletal findings, and intellectual disability.

GENES TESTED:

EZH2

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

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

1 gene

Invitae Oculo-Facio-Cardio-Dental Syndrome Test

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Genetic testing for BCOR, the primary gene associated with oculo-facio-cardio-dental (OFCD) syndrome and Lenz microphthalmia (LMS).

GENES TESTED:

BCOR

1 gene

Invitae Retinoblastoma Test

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Genetic testing of the RB1 gene for hereditary retinoblastoma; other cancer risks include pinealoma, osteosarcoma, soft tissue sarcomas, and melanoma.

GENES TESTED:

RB1

1 gene

Invitae Perlman Syndrome Test

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Genetic testing for the gene DIS3L2, which is associated with Perlman syndrome, a congenital overgrowth condition that is characterized by high neonatal mortality, distinctive facies, multiple congenital anomalies, and Wilms tumor susceptibility.

GENES TESTED:

DIS3L2

1 gene

Invitae PTEN-Related Disorders Test

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Genetic testing for PTEN pathogenic variants that are associated with PTEN hamartoma tumor syndrome and PTEN-related autism spectrum disorder.

GENES TESTED:

PTEN

PTEN: Deletion/duplication analysis covers the promoter region.

1 gene

Invitae Simpson-Golabi-Behmel Syndrome Test

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Genetic testing for the gene GPC3, which is associated with Simpson-Golabi-Behmel syndrome (SGBS1), an overgrowth condition with distinctive facies and risk for embryonal tumors.

GENES TESTED:

GPC3

1 gene

Invitae Sotos Syndrome Test

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Genetic testing for NSD1, the primary gene associated with Sotos syndrome; characterized by distinct facial features, excessive growth during childhood, macrocephaly, and mild-to-severe learning disability.

GENES TESTED:

NSD1

1 gene

Invitae Weaver Syndrome Test

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Genetic testing for the EZH2 gene, which is associated with Weaver syndrome—an overgrowth condition with distinctive facies, skeletal findings, and intellectual disability.

GENES TESTED:

EZH2

6 genes

Invitae Cardio-Facio-Cutaneous Syndrome Panel

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Genetic testing for 6 genes associated with cardio-facio-cutaneous (CFC) syndrome—characterized by symptoms affecting the heart, facial features, skin, hair, and cognition.

GENES TESTED:

BRAF KRAS MAP2K1 MAP2K2 SHOC2 SOS1

1 gene

Invitae Costello Syndrome Test

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Genetic testing for HRAS, the gene associated with Costello syndrome—characterized by coarse facial features, intellectual disability, failure to thrive, and childhood malignancy.

GENES TESTED:

HRAS

up to 2 genes

Invitae Legius Syndrome Test

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Genetic testing for Legius syndrome, a condition with clinical overlap with neurofibromatosis type 1 and characterized by café-au-lait spots, axillary and inguinal freckling, macrocephaly and lipomas.

GENES TESTED:

Primary Panel:
SPRED1

Add-on neurofibromatosis type 1 gene:
NF1

The RASopathies exhibit numerous overlapping phenotypic features due to their common underlying Ras/MAPK pathway dysregulation. Legius syndrome overlaps clinically with neurofibromatosis type 1 (NF1): Both are characterized by the presence of multiple café-au-lait spots and axillary and inguinal freckling, but Legius syndrome lacks NF1-specific features like neurofibromas, Lisch nodules, and optic gliomas. For this reason (and depending on the clinical presentation of the patient), clinicians may wish to include NF1 in this test for a broader analysis.

up to 2 genes

Invitae Neurofibromatosis Type 1 Test

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This test analyzes the NF1 gene, which is associated with neurofibromatosis type 1. Features include café-au-lait macules, neurofibromas, axillary/inguinal freckling, and Lisch nodules.

GENES TESTED:

Primary Panel:
NF1

Add-on Legius syndrome gene:
SPRED1

The RASopathies exhibit several overlapping phenotypic features due to their common underlying Ras/MAPK pathway dysregulation. NF1 overlaps clinically with Legius syndrome. Both syndromes are characterized by the presence of multiple café-au-lait spots and axillary and inguinal freckling, but NF1 has the additional features of neurofibromas, Lisch nodules, and optic gliomas. SPRED1 is the gene associated with Legius syndrome. Depending on the clinical presentation of the patient, clinicians may wish to include SPRED1 in this test for a broader analysis.

3 genes

Invitae Noonan Syndrome with Multiple Lentigines Panel

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Genetic testing for 3 genes associated with Noonan syndrome with multiple lentigines (NSML)—characterized by multiple lentigines, cardiac abnormalities, dysmorphic features, pulmonary stenosis, abnormal genitalia, short stature, and deafness.

GENES TESTED:

BRAF PTPN11 RAF1

1 gene

Invitae Campomelic Dysplasia Test

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Genetic testing for SOX9, the gene associated with campomelic dysplasia (CD).

GENES TESTED:

SOX9

1 gene

Invitae Holt-Oram Syndrome Test

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Genetic testing for TBX5, which is the primary gene associated with Holt-Oram syndrome (HOS), a disorder characterized by upper-limb abnormalities and heart defects.

GENES TESTED:

TBX5

6 genes

Invitae Cardio-Facio-Cutaneous Syndrome Panel

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Genetic testing for 6 genes associated with cardio-facio-cutaneous (CFC) syndrome—characterized by symptoms affecting the heart, facial features, skin, hair, and cognition.

GENES TESTED:

BRAF KRAS MAP2K1 MAP2K2 SHOC2 SOS1

up to 2 genes

Invitae Legius Syndrome Test

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Genetic testing for Legius syndrome, a condition with clinical overlap with neurofibromatosis type 1 and characterized by café-au-lait spots, axillary and inguinal freckling, macrocephaly and lipomas.

GENES TESTED:

Primary Panel:
SPRED1

Add-on neurofibromatosis type 1 gene:
NF1

The RASopathies exhibit numerous overlapping phenotypic features due to their common underlying Ras/MAPK pathway dysregulation. Legius syndrome overlaps clinically with neurofibromatosis type 1 (NF1): Both are characterized by the presence of multiple café-au-lait spots and axillary and inguinal freckling, but Legius syndrome lacks NF1-specific features like neurofibromas, Lisch nodules, and optic gliomas. For this reason (and depending on the clinical presentation of the patient), clinicians may wish to include NF1 in this test for a broader analysis.

3 genes

Invitae Noonan Syndrome with Multiple Lentigines Panel

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Genetic testing for 3 genes associated with Noonan syndrome with multiple lentigines (NSML)—characterized by multiple lentigines, cardiac abnormalities, dysmorphic features, pulmonary stenosis, abnormal genitalia, short stature, and deafness.

GENES TESTED:

BRAF PTPN11 RAF1

1 gene

Invitae PTEN-Related Disorders Test

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Genetic testing for PTEN pathogenic variants that are associated with PTEN hamartoma tumor syndrome and PTEN-related autism spectrum disorder.

GENES TESTED:

PTEN

PTEN: Deletion/duplication analysis covers the promoter region.

Clinical Area: Hereditary Cancer

48 genes

Invitae Pediatric Solid Tumors Panel

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Genetic testing for 48 genes that are associated with a hereditary predisposition to the development of pediatric solid tumors.

GENES TESTED:

ALK APC AXIN2 BAP1 BLM BMPR1A CDC73 CDKN1C DICER1 DIS3L2 EPCAM FH GPC3 HRAS MAX MEN1 MLH1 MSH2 MSH6 NBN NF1 NF2 PHOX2B PMS2 PRKAR1A PTCH1 PTEN RB1 RECQL4 RET SDHA SDHAF2 SDHB SDHC SDHD SMAD4 SMARCA4 SMARCB1 SMARCE1 STK11 SUFU TMEM127 TP53 TSC1 TSC2 VHL WRN WT1

APC: Deletion/duplication analysis covers the 1A and 1B promoter regions.
BMPR1A: Deletion/duplication analysis covers the promoter region.
EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
PHOX2B: Alanine repeat numbers for the commonly expanded region in exon 3 are not determined.
PTEN: Deletion/duplication analysis covers the promoter region.
SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.
TP53: Deletion/duplication analysis covers the promoter region.
WRN: Deletion/duplication analysis is not offered for exons 10 or 11.

16 genes

Invitae Pediatric Hematologic Malignancies Panel

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Genetic testing for 16 genes that are associated with predisposition to childhood-onset hematologic malignancies.

GENES TESTED:

ATM BLM CEBPA EPCAM GATA2 HRAS MLH1 MSH2 MSH6 NBN NF1 PMS2 RUNX1 TERC TERT TP53

EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
TP53: Deletion/duplication analysis covers the promoter region.

up to 32 genes

Invitae Pediatric Nervous System/Brain Tumors Panel

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Genetic testing for up to 32 genes that are associated with a hereditary predisposition to developing pediatric cancers of the central and peripheral nervous system.

GENES TESTED:

Primary Panel:
ALK APC DICER1 EPCAM HRAS MEN1 MLH1 MSH2 MSH6 NF1 NF2 PHOX2B PMS2 PRKAR1A PTCH1 PTEN RB1 SMARCB1 SMARCE1 SUFU TP53 TSC1 TSC2 VHL

APC: Deletion/duplication analysis covers the 1A and 1B promoter regions.
EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
PHOX2B: Alanine repeat numbers for the commonly expanded region in exon 3 are not determined.
PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.

Add-on hereditary paraganglioma-pheochromocytoma genes:
MAX RET SDHA SDHAF2 SDHB SDHC SDHD TMEM127

Head-and-neck paragangliomas are neuroendocrine tumors that may occur in families with hereditary paraganglioma pheochromocytoma (PGL/PCC) syndrome. Clinicians can choose to include eight genes that are associated with PGL/PCC at no additional charge.

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

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

  • Clinical Area: Pediatric and Rare Disease
  • Clinical Area: Hereditary Cancer

Gene
A
Synonym(s): CPAMD9

The A2ML1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Noonan syndrome (OMIM# 610627; PMID: 24939586).

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).

Synonym(s): ACTRIIB; ActR-IIB; HTX4

The ACVR2B gene is associated with autosomal dominant heterotaxy, type 4 (MedGen UID: 462407).

Synonym(s): AMPS; ASASE; ASL

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

AGK
Synonym(s): CATC5; CTRCT38; MTDPS10; MULK

The AGK gene is associated with autosomal recessive Sengers syndrome (MedGen UID:395228). Additionally, the AGK gene has limited evidence supporting a correlation with autosomal recessive non syndromic congenital cataracts (PMID: 22415731)

Synonym(s): Jouberin; AHI-1; JBTS3; ORF1; dJ71N10.1

The AHI1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 798322).

Synonym(s): AKT; CWS6; PKB; PKB-ALPHA; PRKBA; RAC; RAC-ALPHA

The AKT1 gene has preliminary evidence supporting a correlation with autosomal dominant Cowden syndrome and Cowden-like syndrome (PMID: 23246288). Additionally, the AKT1 gene is associated with Proteus syndrome where the pathogenic variant is constitutionally mosaic and not inherited (MedGen UID: 39008).

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).

ALK
Synonym(s): CD246; NBLST3

The ALK gene is associated with autosomal dominant neuroblastoma susceptibility (MedGen UID: 414083).

Synonym(s): ALSS

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

Synonym(s): ANCO-1; ANCO1; LZ16; T13

The ANKRD11 gene is associated with autosomal dominant KBG syndrome (MedGen UID: 66317).

Synonym(s): ADMLX; HH1; HHA; KAL; KAL1; KALIG-1; KMS; WFDC19

The ANOS1 gene is associated with X-linked Kallman syndrome (MedGen UID: 295872).

APC
Synonym(s): BTPS2; DP2; DP2.5; GS; DP3; PPP1R46

The APC gene is associated with autosomal dominant familial adenomatous polyposis (FAP) (MedGen UID: 398651) and attenuated FAP (AFAP) (MedGen UID: 436213).

AR
Synonym(s): AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4; SBMA; SMAX1; TFM

The AR gene is associated with X-linked androgen insensitivity syndrome (AIS) (MedGen UID: 21102) and Kennedy spinal and bulbar muscular atrophy (MedGen UID: 333282). Kennedy SBMA disease-related polyglutamine repeat expansions are not currently analyzed by this assay.

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).

Synonym(s): ARL2L1; JBTS8

The ARL13B gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 436772).

Synonym(s): BBS3; RP55

The ARL6 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and retinitis pigmentosa (MedGen UID: 20551).

Synonym(s): CILD23

The ARMC4 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 815878).

Synonym(s): ASE; CDPX; CDPX1; CDPXR

The ARSE gene is associated with X-linked recessive chondrodysplasia punctata (MedGen UID: 337102)

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).

ATM
Synonym(s): AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1

The ATM gene is associated with an increased risk for autosomal dominant breast and pancreatic cancer (PMID: 15928302, 15942625, 16998505, 22585167, 26483394, 26662178). There is also preliminary evidence supporting a correlation with autosomal dominant colorectal, prostate, and possibly other cancers (PMID: 15928302, 15942625, 26662178). Additionally, the ATM gene is associated with autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439).

Synonym(s): FHM2; MHP2

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

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): 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).

Synonym(s): AXIL; ODCRCS

The AXIN2 gene is associated with autosomal dominant oligodontia-colorectal cancer syndrome (MedGen UID: 324868).

B
Synonym(s): B9; EPPB9; MKS9; MKSR1

The B9D1 gene is associated with autosomal recessive Meckel syndrome (MedGen UID: 481785).

Synonym(s): ICIS-1; MKS10; MKSR2

The B9D2 gene is associated with autosomal recessive Meckel syndrome (MedGen UID: 481666).

Synonym(s): HUCEP-13; hucep-6; UCHL2

The BAP1 gene is associated with autosomal dominant BAP1 tumor predisposition syndrome (MedGen UID: 482122).

Synonym(s): BBS2L2

The BBS1 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422452).

Synonym(s): C12orf58

The BBS10 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347909).

Synonym(s): C4orf24

The BBS12 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347910).

Synonym(s): BBS; RP74

The BBS2 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422453).

The BBS4 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019). Additionally, the BBS4 gene has preliminary evidence supporting a correlation with autosomal recessive Leber congenital amaurosis (LCA) (PMID: 22219648).

The BBS5 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 431047).

Synonym(s): BBS2L1

The BBS7 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347180).

Synonym(s): B1; C18; D1; PTHB1

The BBS9 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347182).

Synonym(s): ANOP2; MAA2; MCOPS2

The BCOR gene is associated with X-linked dominant oculofaciocardiodental (OFCD) syndrome (MedGen UID: 337547). Additionally, the BCOR gene has preliminary evidence supporting a correlation with X-linked recessive Lenz microphthalmia syndrome (PubMed: 26694549).

Synonym(s): CP115; CP94; CTRCT33; LIFL-H

The BFSP1 gene is associated with autosomal dominant congenital cataracts (PMID: 24379646) and autosomal recessive congenital cataracts (MedGen UID: 370714).

Synonym(s): CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN

The BFSP2 gene is associated with autosmal recessive congenital cataracts (PMID: 21836522, 22935719).

BLM
Synonym(s): BS; RECQ2; RECQL2; RECQL3

The BLM gene is associated with autosomal recessive Bloom syndrome (MedGen UID: 2685). Additionally, the BLM gene has preliminary evidence supporting a correlation with autosomal dominant colorectal cancer in individuals who carry a single pathogenic variant (PMID: 12242432, 26358404, 12702560, 18210922).

Synonym(s): 10q23del; ACVRLK3; ALK3; CD292; SKR5

The BMPR1A gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518).

Synonym(s): B-RAF1; B-raf; BRAF1; NS7; RAFB1

The BRAF gene is associated with the autosomal dominant Noonan syndrome (MedGen UID: 462320) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 266149).

C
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): C21orf48; CILD26; FBB18; Kur

The C21orf59 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 816014).

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).

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).

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): JBTS9; MKS6

The CC2D2A gene is associated with autosomal recessive ciliopathies including Joubert syndrome (MedGen UID: 382940), Joubert syndrome with congenital hepatic fibrosis (COACH syndrome; MedGen UID: 387879), and Meckel-Gruber syndrome (MedGen UID: 382942).

Synonym(s): CILD17; PR46b; SMH

The CCDC103 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 762261).

Synonym(s): CILD20

The CCDC114 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 761920).

Synonym(s): CILD30

The CCDC151 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 807540).

Synonym(s): CILD14; FAP59

The CCDC39 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 462486).

Synonym(s): CILD15; FAP172

The CCDC40 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 462487).

Synonym(s): CFAP250; CILD27; DRC2; FAP250; NYD-SP28

The CCDC65 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 816031).

Synonym(s): C7orf22; OSM; PP10187

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

Synonym(s): CCNU; CILD29; UDG2

The CCNO gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID 786447).

Synonym(s): C1orf28; FIHP; HPTJT; HRPT1; HRPT2; HYX

The CDC73 gene is associated with autosomal dominant hyperparathyroidism-jaw tumor syndrome (HPT-JT), parathyroid carcinoma, and familial isolated hyperparathyroidism (FIH) (MedGen UID: 310065, 146361, 333554), collectively referred to as CDC73-related conditions.

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): BWCR; BWS; KIP2; p57; p57Kip2; WBS

The CDKN1C gene is associated with autosomal dominant Beckwith-Wiedemann syndrome (MedGen UID: 2562). Additionally, the CDKN1C gene has preliminary evidence supporting a correlation with autosomal dominant intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGe syndrome) (MedGen UID: 337364).

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).

Synonym(s): C/EBP-alpha; CEBP

The CEBPA gene is associated with autosomal dominant familial acute myeloid leukemia (MedGen UID: 9730).

Synonym(s): 3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4; NPHP6; POC3; SLSN6; rd16

The CEP290 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 346672), Joubert syndrome (MedGen UID: 347545) and Bardet-Biedl syndrome (MedGen UID: 393033).

Synonym(s): ABC35; ABCC7; CF; CFTR/MRP; MRP7; TNR-CFTR; dJ760C5.1

The CFTR gene is associated with autosomal recessive cystic fibrosis (MedGen UID: 41393) and congenital absence of the vas deferens (CAVD) (MedGen UID: 98021). Additionally, the CFTR gene is associated with an increased risk for chronic pancreatitis (PMID: 17003641, 11729110).

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).

CHM
Synonym(s): A1L4D2; AK299323; O43732; P24386; RAE1_HUMAN; REP1; TCD; Rab Proteins Geranylgeranyltransferase Component A 1; Rab Escort Protein 1; Rab Geranylgeranyltransferase Component A; GGTA; DXS540; HSD-32; REP-1

The CHM gene is associated with X-linked choroideremia (MedGen UID: 944).

Synonym(s): C20orf178; CHMP4A; CTPP3; CTRCT31; SNF7; SNF7-2; Shax1; VPS32B; Vps32-2; dJ553F4.4

The CHMP4B gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant Congenital Cataracts (PMID:10682967, 10909854).

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): EFNL3; nAChRB2

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

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).

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).

Synonym(s): EDSC; OI1; OI2; OI3; OI4

The COL1A1 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246), Ehlers-Danlos syndrome, arthrochalasia type (MedGen UID: 78662), and Caffey disease (PMID: 24389367).

Synonym(s): OI4

The COL1A2 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246) and Ehlers-Danlos syndrome, arthrochalasia type (MedGen UID: 78662). The COL1A2 gene is also associated with autosomal recessive Ehlers-Danlos syndrome, cardiac valvular form (MedGen UID: 347359).

Synonym(s): CBP; KAT3A; RSTS

The CREBBP gene is associated with autosomal dominant Rubinstein-Taybi syndrome 1 (RSTS1) (MedGen UID: 48517) and is commonly deleted in the recurrent 16p13.3 microdeletion syndrome (OMIM: 610543), a severe form of RSTS resulting from a contiguous gene deletion involving CREBBP as well as other neighboring genes.

Synonym(s): AVSD2; CIRRIN

The CRELD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atrioventricular septal defects (PMID: 15857420, 21080147).

Synonym(s): CASP; LEPREL3; OI7; P3H5

The CRTAP gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 343981).

Synonym(s): CRYA1; CTRCT9; HSPB4

The CRYAA gene is associated with autosomal dominant and autosomal recessive congenital cataracts (MedGen UID:347693)

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).

Synonym(s): CRYB1; CTRCT10

The CRYBA1 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 318817).

Synonym(s): CTRCT23; CYRBA4; MCOPCT4

The CRYBA4 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant Congenital Cataracts (PMID: 16960806)

Synonym(s): CATCN3; CTRCT17

The CRYBB1 gene is associated with autosomal dominant congenital cataracts (PMID: 18432316) and autosomal recessive congenital cataracts (MedGen UID: 370592).

Synonym(s): CCA2; CRYB2; CRYB2A; CTRCT3; D22S665

The CRYBB2 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 321901).

Synonym(s): CATCN2; CRYB3; CTRCT22

The CRYBB3 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 341862). Additionally, the CRYBB3 gene has preliminary evidence supporting a correlation with autosomal dominant congenital cataracts (PMID: 23508780).

Synonym(s): CRYG2; CTRCT39

The CRYGB gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant Congenital Cataracts (MedGen UID: 815130)

Synonym(s): CCL; CRYG3; CTRCT2

The CRYGC gene is associated with autosomal dominant congenital cataracts (MedGen UID: 343810).

Synonym(s): CACA; CCA3; CCP; CRYG4; CTRCT4; PCC; cry-g-D

The CRYGD gene is associated with autosomal dominant congenital cataracts (MedGen UID: 348463). Additionally, the CRYGD gene has limited evidence supporting a correlation with congenital cataracts in association with microcornea (CCMC) (PMID: 17724170).

Synonym(s): CRYG8; CTRCT20

The CRYGS gene is associated with autosomal dominant congenital cataracts (MedGen UID: 101117).

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.

Synonym(s): FCP1; CCFDN

The CTDP1 gene is associated with autosomal recessive congenital cataracts with facial dysmorphism and neuropathy (CCFDN) (Medgen UID: 346973).

Synonym(s): CLCR; ELA4

The CTRC gene is associated with an increased risk for chronic pancreatitis (MedGen UID: 116056).

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).

D
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).

Synonym(s): SLOS

The DHCR7 gene is associated with autosomal recessive Smith-Lemli-Opitz syndrome (SLOS) (Medgen UID: 61231).

Synonym(s): DCR1; Dicer; Dicer1e; HERNA; K12H4.8-LIKE; MNG1; RMSE2

The DICER1 gene is associated with autosomal dominant DICER1-related pleuropulmonary blastoma familial tumor predisposition syndrome (MedGen UID: 449020).

Synonym(s): FAM6A; hDIS3L2; PRLMNS

The DIS3L2 gene is associated with autosomal recessive Perlman syndrome (MedGen UID: 162909). Additionally, the DIS3L2 gene has preliminary evidence supporting a correlation with autosomal dominant non-syndromic Wilms tumor (PMID: 25670083).

Synonym(s): CILD13; LRRC50; ODA7

The DNAAF1 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 413399).

Synonym(s): C14orf104; CILD10; KTU; PF13

The DNAAF2 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 382707).

Synonym(s): C19orf51; CILD2; DAB1; PCD; PF22

The DNAAF3 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 338258).

Synonym(s): HEATR2; CILD18

The DNAAF5 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 762331).

Synonym(s): CILD7; DNAHBL; DNAHC11; DNHBL; DPL11

The DNAH11 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 394834).

Synonym(s): CILD3; DNAHC5; HL1; KTGNR; PCD

The DNAH5 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 325210).

Synonym(s): ATPase; hdhc9

The DNAH8 gene is associated with autosomal recessive primary ciliary dyskinesia (OMIM# 603337; PMID: 24307375).

Synonym(s): CILD1; DIC1; ICS1; PCD

The DNAI1 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD), or Kartagener syndrome (MedGen UID: 9615).

Synonym(s): CILD9; DIC2

The DNAI2 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 390990).

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).

Synonym(s): C14orf168; CILD16

The DNAL1 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 462810).

Synonym(s): C2orf39; CCDC164; CILD21

The DRC1 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 815417).

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): ATD3; DHC1b; DHC2; DNCH2; DYH1B; SRPS2B; SRTD3; hdhc11

The DYNC2H1 gene is associated with autosomal recessive asphyxiating thoracic dystrophy (MedGen UID: 462535).

Synonym(s): CILD25; DNAAF4; DYX1; DYXC1; EKN1; RD

The DYX1C1 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 815971).

E
EDA
Synonym(s): ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2; EDA1; EDA2; HED; HED1; ODT1; STHAGX1; TNLG7C; XHED; XLHED

The EDA gene is associated with X-linked hypohidrotic ectodermal dysplasia (MedGen UID: 57890).

Synonym(s): DL; ECTD10A; ECTD10B; ED1R; ED3; ED5; EDA-A1R; EDA1R; EDA3; HRM1

The EDAR gene is associated with autosomal recessive hypohidrotic ectodermal dysplasia (HED) (MedGen UID: 96067). Additionally, the EDAR gene has preliminary evidence supporting a correlation with autosomal dominant hypohidrotic ectodermal dysplasia (MedGen UID: 314095; PMID: 10431241, 20979233).

Synonym(s): ECTD11A; ECTD11B; ED3; EDA3

The EDARADD gene is associated with autosomal dominant and autosomal recessive hypohidrotic ectodermal dysplasia (MedGen UID: 314095, 96067).

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

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

ELN
Synonym(s): SVAS; WBS; WS

The ELN gene is associated with autosomal dominant supravalvar aortic stenosis (SVAS) (MedGen UID: 2001), autosomal dominant cutis laxa (MedGen UID: 120630), and is one of the genes commonly deleted in the microdeletion associated with Williams syndrome (WS) (MedGen UID: 59799).

Synonym(s): DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8; KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1

Inactivation of MSH2 through deletions at the 3’ end of the EPCAM gene are known to cause autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer, or HNPCC) (MedGen UID: 40399; PMID: 23938213, 23264089, 19455606). EPCAM is also associated with autosomal recessive congenital tufting enteropathy (CTE) (MedGen UID: 413031; PMID: 18572020, 21315192).

Synonym(s): ARCC2; CTPA; CTPP1; CTRCT6; ECK

The EPHA2 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 396229).

Synonym(s): EPM2; MELF

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

ERF
Synonym(s): CRS4; PE-2; PE2

The ERF gene is associated with autosomal dominant craniosynostosis (MedGen UID: 468569).

Synonym(s): BOP; BOR; BOS1; OFC1

The EYA1 gene is associated with autosomal dominant forms of branchiootorenal spectrum disorders (Medgen UID: 351307, 82693) and Oto-facio-cervical (OFC) syndrome (Medgen UID: 322257).

Synonym(s): ENX-1; ENX1; EZH1; EZH2b; KMT6; KMT6A; WVS; WVS2

The EZH2 gene is associated with autosomal dominant Weaver syndrome (MedGen UID: 120511).

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

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

Synonym(s): DRCTNNB1A; HCC; HLD5; HYCC1

The FAM126A gene is associated with autosomal recessive hypomyelination and congenital cataracts (HCC) (MedGen UID: 382379).

Synonym(s): BFGFR; CD331; CEK; ECCL; FGFBR; FGFR-1; FLG; FLT-2; FLT2; HBGFR; HH2; HRTFDS; KAL2; N-SAM; OGD; bFGF-R-1

The FGFR1 gene is associated with autosomal dominant isolated hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 289648). Other FGFR1-related conditions have been reported (OMIM: 136350).

Synonym(s): BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25

The FGFR2 gene is associated with autosomal dominant forms of craniosynostosis. This includes Apert syndrome (OMIM: 101200), Crouzon syndrome (MedGen UID: 1162), Jackson-Weiss syndrome (MedGen UID: 208653), Pfeiffer syndrome (MedGen UID: 350148), and Beare-Stevenson syndrome (OMIM: 123790).

Synonym(s): ACH; CD333; CEK2; HSFGFR3EX; JTK4

The FGFR3 gene is associated with autosomal dominant skeletal dysplasias (MedGen UID: 1289, 98376, 358383) and craniosynostosis (MedGen UID: 355217, 394201). Other FGFR3-related conditions have been reported (OMIM: 134934).

FH
Synonym(s): MCL; LRCC; HLRCC; MCUL1; FMRD

The FH gene is associated with autosomal dominant hereditary leiomyomatosis and renal cell cancer (HLRCC) (MedGen UID: 353771) and autosomal recessive fumarate hydratase deficiency (FHD) (MedGen UID: 87458). Additionally, the FH gene has preliminary evidence supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma (PMID: 24334767, 25004247).

Synonym(s): FBP; FOLR

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

Synonym(s): ARA; FKHL7; FREAC-3; FREAC3; IGDA; IHG1; IRID1; RIEG3

The FOXC1 gene is associated with autosomal dominant forms of Axenfeld-Rieger syndrome (Medgen UID: 394534).

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).

Synonym(s): CATC2; CTRCT18; RUFY3; ZFYVE7

The FYCO1 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 351249)

G
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): GK1; GALK; HEL-S-19

The GALK1 gene is associated with autosomal recessive galactokinase galactosemia (MedGen UID: 120614).

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

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

Synonym(s): DCML; IMD21; MONOMAC; NFE1B

The GATA2 gene is associated with autosomal dominant GATA2 deficiency (MedGen UID: 481660), including Emberger syndrome (MedGen UID: 481294).

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).

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): CCAT; CTRCT13; GCNT2C; GCNT5; IGNT; II; NACGT1; NAGCT1; ULG3; bA360O19.2; bA421M1.1

The GCNT2 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 811703).

Synonym(s): DORV; DTGA3; RAI

The GDF1 gene is associated with autosomal recessive heterotaxy (PMID: 20413652). Additionally, the GDF gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart defects (PMID: 17924340).

Synonym(s): AVSD3; CMDR; CX43; EKVP; GJAL; HLHS1; HSS; ODDD; PPKCA

The GJA1 gene is associated with autosomal dominant forms of hypoplastic left heart syndrome (MedGen UID: 57746), atrioventricular septal defect (MedGen UID: 342900), oculodentodigital dysplasia (MedGen UID: 167236), and syndactyly type 3 (MedGen UID: 396117), as well as autosomal recessive craniometaphyseal dysplasia (MedGen UID: 387837).

Synonym(s): CTRCT14; CX46; CZP3

The GJA3 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 356152)

Synonym(s): CAE; CAE1; CTRCT1; CX50; CZP1; MP70

The GJA8 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 349374) and autosomal recessive congenital cataracts (PMID: 21720542).

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).

Synonym(s): ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA; PAPA1; PAPB; PHS; PPDIV

The GLI3 gene is associated with autosomal dominant Greig cephalopolysyndactyly syndrome (MedGen UID: 120531), Pallister-Hall syndrome (MedGen UID: 120514) and polydactyly (MedGen UID: 67394, 357420).

Synonym(s): NKL; NPHP7

The GLIS2 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 369409).

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

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

Synonym(s): Bos1; EPM6; GS27

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

Synonym(s): DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS; SGBS1

The GPC3 gene is associated with X-linked recessive Simpson-Golabi-Behmel syndrome (MedGen UID: 162917).

Synonym(s): SOM; TFCP2L4; VWS2

The GRHL3 gene is associated with autosomal dominant van der Woude syndrome (MedGen UID: 338272).

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
Synonym(s): Hxt; Thing1; bHLHa27; eHand

The HAND1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypoplastic left heart syndrome, atrioventricular septal defects and ventricular septal defects (PMID: 19586923, 18276607, 22032825).

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

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

Synonym(s): CDA07; CDLS5; HD8; HDACL1; MRXS6; RPD3; WTS

The HDAC8 gene is associated with X-linked Cornelia de Lange syndrome (MedGen UID: 78752). Additionally, the HDAC8 gene has limited evidence supporting a correlation with X-linked Wilson-Turner syndrome (PMID: 22889856 ).

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).

Synonym(s): HGPRT; HPRT

The HPRT1 gene is associated with X-linked recessive Lesch-Nyhan syndrome (MedGen UID: 9721) and X-linked recessive HPRT1-related gout (MedGen UID: 82770).

Synonym(s): C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO; H-RASIDX; HAMSV; HRAS1; p21ras; RASH1

The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454). Other HRAS-related conditions have been reported (OMIM).

Synonym(s): CTM; CTRCT5

The HSF4 gene is associated with autosomal dominant cataracts (MedGen UID: 78608)

I
Synonym(s): ATD2; SRTD2; WDR56

The IFT80 gene is associated with autosomal recessive asphyxiating thoracic dystrophy (MedGen UID: 468503).

Synonym(s): CORS1; CPD4; JBTS1; MORMS; PPI5PIV

The INPP5E gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 468502).

Synonym(s): INV; NPH2; NPHP2

The INVS gene is associated with autosomal recessive infantile nephronopthisis (MedGen UID: 355574).

Synonym(s): NPHP5; PIQ; SLSN5

The IQCB1 gene is associated with autosomal recessive nephronophthisis and Leber congenital amaurosis, which, when present together, are referred to as Senior-Loken syndrome (MedGen UID: 332226).

Synonym(s): LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1

The IRF6 gene is associated with autosomal dominant popliteal pterygium syndrome (MedGen UID: 78543) and autosomal dominant van der Woude syndrome (MedGen UID:61233). Additionally, the IRF6 gene has limited evidence supporting a correlation with non-syndromic orofacial cleft (MedGen UID: 332391).

J
Synonym(s): AGS; AHD; AWS; CD339; HJ1; JAGL1

The JAG1 gene is associated with autosomal dominant Alagille syndrome (MedGen UID: 365434) and tetralogy of Fallot (MedGen UID: 21498).

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).

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).

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).

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): KABUK2; UTX; bA386N14.2

The KDM6A gene is associated with X-linked dominant Kabuki syndrome (MedGen UID: 162897).

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): AAD10; ALR; CAGL114; KABUK1; KMS; MLL2; MLL4; TNRC21

The KMT2D gene is associated with autosomal dominant Kabuki syndrome (MedGen UID: 162897).

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): C-K-RAS; CFC2; K-RAS2A; K-RAS2B; K-RAS4A; K-RAS4B; KI-RAS; KRAS1; KRAS2; NS; NS3; RALD; RASK2; c-Ki-ras2

The KRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 349931) and cardiofaciocutaneous (CFC) syndrome (MedGen UID: 501102). Other KRAS-related conditions have been reported (OMIM).

Synonym(s): CCM1; CAM

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

L
Synonym(s): EBAF; LEFTA; LEFTYA; TGFB4

The LEFTY2 gene is associated with autosomal dominant left-right axis malformations (also called LEFTY2-related heterotaxy; MedGen UID: 355624).

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).

Synonym(s): CTRCT19; MP17; MP19

The LIM2 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal recessive cataracts (PMID: 11917274).

Synonym(s): DASS; LTBP-3; LTBP2; STHAG6; pp6425

The LTBP3 gene is associated with autosomal recessive dental anomalies and short stature (MedGen UID: 318659).

M
Synonym(s): CFC3; MAPKK1; MEK1; MKK1; PRKMK1

The MAP2K1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501103).

Synonym(s): CFC4; MAPKK2; MEK2; MKK2; PRKMK2

The MAP2K2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501103).

Synonym(s): 3MC1; CRARF; CRARF1; MAP1; MASP; MASP3; MAp44; PRSS5; RaRF

The MASP1 gene is associated with autosomal recessive 3MC syndrome 1 (3MC1) (MedGen UID: 167100).

MAX
Synonym(s): bHLHd4

The MAX gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 313270).

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): IDAS; MCI; MCIN

The MCIDAS gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 3467).

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).

Synonym(s): MRFACD; PROSIT240; THRAP2; TRAP240L

The MED13L gene is associated with autosomal dominant transposition of great arteries, dextro-looped 1 (MedGen UID: 332422).

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

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

Synonym(s): C19orf49; CRPT2; EGFL4; SBP1

The MEGF8 gene is associated with autosomal recessive Carpenter syndrome (MedGen UID: 226897).

Synonym(s): MEAI; SCG2

The MEN1 gene is associated with autosomal dominant multiple endocrine neoplasia type 1 (MEN1) syndrome (MedGen UID: 9957) and familial isolated hyperparathyroidism (FIHP) (OMIM: 145000).

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).

MIP
Synonym(s): AQP0; CTRCT15; LIM1; MIP26; MP26

The MIP gene is associated with autosomal dominant congenital cataracts (MedGen UID: 815331).

Synonym(s): BBS6; HMCS; KMS; MKS

The MKKS gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and autosomal recessive McKusick-Kaufman syndrome (MedGen UID: 184924).

Synonym(s): BBS13; MES; MKS; POC12

The MKS1 gene is associated with autosomal recessive Meckel-Gruber syndrome (MedGen UID: 811346), and Joubert syndrome (PMID: 24886560).

Synonym(s): COCA2; HNPCC; HNPCC2; FCC2; hMLH1

The MLH1 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 232603) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

Synonym(s): MRE11; MRE11B; ATLD; HNGS1

The MRE11A gene is associated with autosomal recessive ataxia-telangiectasia-like disorder (ATLD) (MedGen UID: 348929). There is preliminary evidence suggesting a phenotypic overlap between ATLD and autosomal recessive Joubert syndrome (PMID: 22863007). Additionally, the MRE11A gene has preliminary evidence supporting a correlation with autosomal dominant breast cancer in individuals who carry a single pathogenic MRE11A variant (PMID: 14684699, 24894818).

Synonym(s): FCC1; COCA1; HNPCC; LCFS2; HNPCC1

The MSH2 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 423615) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

Synonym(s): GTBP; GTMBP; HNPCC5; p160; HSAP

The MSH6 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 318886) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

Synonym(s): ECTD3; HOX7; HYD1; STHAG1

The MSX1 gene is associated with tooth agenesis (MedGen UID: 43794) and orofacial clefting (MedGen UID: 373280). Additionally, the MSX1 gene has preliminary evidence supporting a correlation with autosomal dominant ectodermal dysplasia affecting the teeth and nails, also known as Witkop syndrome (PMID: 11369996).

Synonym(s): CRS2; FPP; HOX8; MSH; PFM; PFM1

The MSX2 gene is associated with autosomal dominant parietal foramina (MedGen UID: 358250), parietal foramina with cleidocranial dysplasia (MedGen UID: 401479), and craniosynostosis (MedGen UID: 468569).

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).

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).

N
NBN
Synonym(s): NBS1; NBS; P95; AT-V1; AT-V2; ATV

The NBN gene is associated with an increased risk for autosomal dominant breast cancer in individuals who carry a single pathogenic NBN variant (PMID: 21514219, 16770759). Additionally, the NBN gene is associated with autosomal recessive Nijmegen breakage syndrome (NBS) (MedGen UID: 140771).

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).

Synonym(s): JCK; NEK12A; NPHP9; RHPD2

The NEK8 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 462538).

NF1
Synonym(s): NFNS; VRNF; WSS

The NF1 gene is associated with autosomal dominant neurofibromatosis type 1 (NF1) (MedGen UID: 18013). Additionally, evidence of varying degrees suggests a possible association between the NF1 gene and several cancer types (PMID: 23257896, 23165953, 25130111, 20833335).

NF2
Synonym(s): merlin; ACN; SCH; BANF

The NF2 gene is associated with autosomal dominant neurofibromatosis type 2 (NF2) (MedGen UID: 18014).

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).

NHS
Synonym(s): CTRCT40; CXN; SCML1

The NHS gene is associated with X-linked Nance-Horan syndrome (MedGen UID: 208665).

Synonym(s): CDLS; CDLS1; IDN3; IDN3-B; Scc2

The NIPBL gene is associated with autosomal dominant Cornelia de Lange syndrome (MedGen UID: 429758).

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): CSX2; CTHM; NKX2F; NKX4-2

The NKX2-6 gene is associated with autosomal recessive conotruncal heart malformations (MedGen UID: 341803).

Synonym(s): CILD6; HEL-S-99; NM23-H8; SPTRX2; TXNDC3; sptrx-2

The NME8 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID:370930).

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): AOS5; AOVD1; TAN1; hN1

The NOTCH1 gene is associated with autosomal dominant aortic valve disorder (MedGen UID: 226776) and Adams-Oliver syndrome (MedGen UID: 807523).

Synonym(s): AGS2; HJCYS; hN2

The NOTCH2 gene is associated with autosomal dominant Hajdu-Cheney syndrome (MedGen UID: 182961) and Alagille syndrome 2 (ALGS2) (MedGen UID: 341844).

Synonym(s): JBTS4; NPH1; SLSN1

The NPHP1 gene is associated with autosomal recessive ciliopathies including nephronophthisis (MedGen UID: 343406), Senior-Loken syndrome (MedGen UID: 96045) and Joubert syndrome 4 (MedGen UID: 335526).

Synonym(s): CFAP31; MKS7; NPH3; RHPD; RHPD1; SLSN3

The NPHP3 gene is associated with autosomal recessive ciliopathies including nephronopthisis (MedGen UID: 346809), Meckel-Gruber syndrome (MedGen UID: 382217), and renal-hepatic-pancreatic dysplasia (MedGen UID: 382215).

Synonym(s): POC10; SLSN4

The NPHP4 gene is associated with autosomal recessive ciliopathies including nephronophthesis (MedGen UID: 339667) and Senior-Loken syndrome, type 4 (MedGen UID: 337697).

Synonym(s): AHC; AHCH; AHX; DAX-1; DAX1; DSS; GTD; HHG; NROB1; SRXY2

The NR0B1 gene is associated with X-linked congenital adrenal hypoplasia (MedGen UID: 87442) and disorders of sex development (MedGen UID: 341190).

Synonym(s): ARP1; CHTD4; COUPTFB; COUPTFII; NF-E3; NR2F1; SVP40; TFCOUP2

The NR2F2 gene is associated with autosomal dominant congenital heart defects (MedGen UID: 777001) and heterotaxy (MedGen UID: 336609).

Synonym(s): AD4BP; ELP; FTZ1; FTZF1; POF7; SF-1; SF1; SPGF8; SRXY3; hSF-1

The NR5A1 gene is associated with autosomal dominant disorders of sex development (MedGen UID: 414114), spermatogenic failure (MedGen UID: 140793), and premature ovarian failure (MedGen UID: 38820).

Synonym(s): ALPS4; CMNS; N-ras; NCMS; NRAS1; NS6

The NRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 413028).

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

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

Synonym(s): ARA267; KMT3B; SOTOS; SOTOS1; STO

The NSD1 gene is associated with autosomal dominant Sotos syndrome (MedGen UID: 833601).

Synonym(s): H105E3; SDR31E1; XAP104

The NSDHL gene is associated with X-linked dominant CHILD syndrome (MedGen UID: 82697) and X-linked recessive CK syndrome (MedGen UID: 463131).

O
Synonym(s): INPP5F; LOCR; NPHL2; OCRL-1; OCRL1

The OCRL gene is associated with X-linked recessive Lowe syndrome (MedGen UID: 18145)

Synonym(s): RP23; JBTS10; CX0rf5; SGBS2; 17-7A; 71-7A; CXorf5

The OFD1 gene is associated with X-linked dominant Oral-facial-digital syndrome, type 1 (MedGen UID: 307142) and X-linked recessive OFD1-related Joubert syndrome (MedGen UID: 300804). Additionally, OFD1 has been reported in association with primary ciliary dyskinesia (PMID: 16783569).

Synonym(s): CPHD6; MCOPS5

The OTX2 gene is associated with autosomal dominant microphthalmia, anophthalmia, coloboma (MAC) spectrum (MedGen UID: 468558). Additionally, the OTX2 gene has preliminary evidence supporting a correlation with autosomal dominant pituitary hormone deficiency (MedGen UID: 462790; PMID: 18728160) and autosomal dominant Leber congenital amaurosis (LCA) (PMID: 23847139, 15846561).

P
Synonym(s): GROS1; LEPRE1; OI8

The P3H1 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 410075).

Synonym(s): FSGS7; PAPRS

The PAX2 gene is associated with autosomal dominant papillorenal syndrome (MedGen UID: 339002). Additionally, the PAX2 gene has preliminary evidence supporting a correlation with autosomal dominant focal segmental glomerulosclerosis (FSGS) (MedGen UID: 807486; PMID: 24676634).

Synonym(s): AN; AN2; D11S812E; FVH1; MGDA; WAGR

The PAX6 gene is associated with autosomal dominant Peter’s anamoly (MedGen UID: 91031), autosomal dominant aniridia (MedGen UID: 1941), autosomal dominant keratitis (MedGen UID: 332039) and autosomal dominant optic nerve malformations (OMIM: 120430). Additionally, the PAX6 gene has limited evidence supporting a correlation with autosomal dominant Gillespie syndrome (MedGen UID: 96563) and autosomal dominant foveal hypoplasia (MedGen UID: 342639). PAX6 is also involved in the contiguous gene deletion syndrome WAGR (MedGen UID: 64512).

Synonym(s): STHAG3

The PAX9 gene is associated with autosomal dominant tooth agenesis (MedGen UID: 43794).

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).

Synonym(s): NBLST2; NBPhox; PMX2B

The PHOX2B gene is associated with autosomal dominant congenital central hypoventilation syndrome (CCHS) (MedGen UID: 347052).

Synonym(s): ARP1; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS

The PITX2 gene is associated with autosomal dominant Axenfeld-Rieger syndrome (ARS) (MedGen UID: 811487) and autosomal dominant iridogoniodysgenesis (MedGen UID: 330750). Additionally, the PITX2 gene has limited evidence supporting a correlation with Peters anomaly (PMID: 10051017) and ring dermoid of cornea (PMID: 15591271).

Synonym(s): ASMD; ASOD; CTPP4; CTRCT11; PTX3

The PITX3 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 351162). Additionally, the PITX3 gene has preliminary evidence supporting a correlation with anterior segment mesenchymal dysgenesis (MedGen UID: 350766).

Synonym(s): APKD2; PC2; PKD4; Pc-2; TRPP2

The PKD2 gene is associated with autosomal dominant polycystic kidney disease, type 2 (MedGen UID: 442699).

Synonym(s): ARPKD; FCYT; TIGM1

The PKHD1 gene is associated with autosomal recessive polycystic kidney disease (MedGen UID: 39076).

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): HNPCC4; PMS2CL; PMSL2; MLH4

The PMS2 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 325005) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

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).

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): 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]

Synonym(s): MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS

The PQBP1 gene is associated with X-linked recessive Renpenning syndrome (MedGen UID: 208670).

Synonym(s): EPM1B; RILP

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

Synonym(s): TSE1; Tissue-Specific Extinguisher 1; PKR1; CAR; CNC1; PPNAD1; ACRDYS1; ADOHR; CNC; CAMP-Dependent Protein Kinase; Regulatory Subunit Rialpha; CAMP-Dependent Protein Kinase Type I-Alpha Regulatory Chain; CAMP-Dependent Protein Kinase Type I-Alpha Regulatory Subunit; Protein Kinase A Type 1a Regulatory Subunit; PRKAR1

The PRKAR1A gene is associated with autosomal dominant Carney complex (CNC) (MedGen UID: 388559).

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).

Synonym(s): TRP1; TRY1; TRY4; TRYP1

The PRSS1 gene is associated with autosomal dominant hereditary pancreatitis (Medgen UID: 116056).

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).

Synonym(s): 10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1; PTEN1; TEP1

The PTEN gene is associated with autosomal dominant PTEN hamartoma tumor syndrome (PHTS) including the clinical subtypes of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome (MedGen UID: 368366).

Synonym(s): BPTP3; CFC; JMML; METCDS; NS1; PTP-1D; PTP2C; SH-PTP2; SH-PTP3; SHP2

The PTPN11 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527), Noonan syndrome with multiple lentigines (NSML)(MedGen UID: 442308), and metachondromatosis (MedGen UID: 98377).

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
Synonym(s): HSPC137

The RAB23 gene is associated with autosomal recessive Carpenter syndrome (MedGen UID: 226897).

Synonym(s): CDLS4; HR21; HRAD21; MCD1; NXP1; SCC1; hHR21

The RAD21 gene is associated with autosomal dominant Cornelia de Lange syndrome (MedGen UID: 766431).

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).

Synonym(s): CM-AVM; CMAVM; GAP; PKWS; RASA; RASGAP; p120; p120GAP; p120RASGAP

The RASA1 gene is associated with autosomal dominant capillary malformation-arteriovenous malformations (CM-AVM)(MedGen UID: 334007) and Parkes Weber syndrome (MedGen UID: 442305).

RB1
Synonym(s): OSRC; p105-Rb; pp110; PPP1R130; pRb; RB

The RB1 gene is associated with autosomal dominant retinoblastoma (MedGen UID: 20552). Additionally, evidence of varying degrees suggests a possible association between the RB1 gene and several cancer types in retinoblastoma survivors (PMID: 14996857, 22355046).

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).

Synonym(s): RECQ4

The RECQL4 gene is associated with autosomal recessive Rothmund-Thomson syndrome (MedGen UID: 10819), RAPADILINO syndrome (MedGen UID: 336602), and Baller-Gerold syndrome (MedGen UID: 120532).

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

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

RET
Synonym(s): CDHF12; CDHR16; HSCR1; MEN2A; MEN2B; MTC1; PTC; RET-ELE1; RET51

The RET gene is associated with autosomal dominant multiple endocrine neoplasia type 2 (MEN2) syndrome (MedGen UID: 9958) and nonsyndromic Hirschsprung disease (MedGen UID: 419188).

Synonym(s): NS8; RIBB; RIT; ROC1

The RIT1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID 506991).

Synonym(s): KTZS

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

Synonym(s): COD1; CORDX1; CRD; PCDX; RP15; RP3; XLRP3; orf15

The RPGR gene is associated with complex X-linked retinitis pigmentosa and primary ciliary dyskinesia (PMID: 16055928).

Synonym(s): CORS3; FTM; JBTS7; MKS5; NPHP8; PPP1R134

The RPGRIP1L gene is associated with autosomal recessive ciliopathies including Joubert syndrome (MedGen UID: 369401), Meckel syndrome (MedGen UID: 409740), and COACH syndrome (MedGen UID: 387879).

Synonym(s): CLS; HU-3; ISPK-1; MAPKAPK1B; MRX19; RSK; RSK2; S6K-alpha3; p90-RSK2; pp90RSK2

The RPS6KA3 gene is associated with X-linked dominant Coffin Lowry syndrome (MedGen UID: 75556) and isolated intellectual disability (MedGen UID: 208676).

Synonym(s): CT79; RSP44; RSPH10A; TSA2; TSGA2

The RSPH1 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 815964).

Synonym(s): CILD11; RSHL3; RSPH6B; dJ412I7.1

The RSPH4A gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 390741).

Synonym(s): C6orf206; CILD12; MRPS18AL1

The RSPH9 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 436379).

Synonym(s): AML1; AML1-EVI-1; AMLCR1; CBF2alpha; CBFA2; EVI-1; PEBP2aB; PEBP2alpha

The RUNX1 gene is associated with autosomal dominant familial platelet disorder with associated myeloid malignancy (MedGen UID: 321945).

S
Synonym(s): HEL-S-89; HSAL1; Sal-1; TBS; ZNF794

The SALL1 gene is associated with autosomal dominant Townes-Brocks syndrome (MedGen UID: 75555)

Synonym(s): DRRS; HSAL4; ZNF797

The SALL4 gene is associated with a spectrum of autosomal dominant SALL4-related disorders: Duane-radial ray syndrome (DRRS), acro-renal-ocular syndrome (AROS), and SALL4-related Holt-Oram syndrome (HOS). (MedGen UID: 301647, 831194, 833793).

Synonym(s): GLSS

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

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).

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): 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): C11orf79; PGL2; SDH5

The SDHAF2 gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 357076).

Synonym(s): PGL4; SDH; SDH1; SDH2; CWS2; IP; SDHIP

The SDHB gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 349380), gastrointestinal stromal tumors (GIST) (MedGen UID: 116049), and renal cancer (PMID: 18728283). Other SDHB-related conditions have been reported (OMIM: 185470).

Synonym(s): CYB560; CYBL; PGL3; QPS1; SDH3

The SDHC gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 340200), gastrointestinal stromal tumors (GIST) (MedGen UID: 116049), and renal cell carcinoma (PMID: 23083876).

Synonym(s): PGL; PGL1; SDH4; CBT1; CII-4; CWS3; QPs3; cybS

The SDHD gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 358258) and gastrointestinal stromal tumors (GIST) (PMID: 24886695). Other SDHD-related conditions have been reported (OMIM: 602690).

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): 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).

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): SIAA0862; SOC2; SUR8

The SHOC2 gene is associated with autosomal dominant Noonan-like syndrome with loose anagen hair (MedGen UID: 334697).

Synonym(s): BAP; MSS; ULG5

The SIL1 gene is associated with autosomal recessive Marinesco-Sjogren syndrome (MSS) (MedGen UID: 6222).

Synonym(s): BOS3; DFNA23; TIP39

The SIX1 gene is associated with autosomal dominant branchiootorenal spectrum disorders (MedGen UID: 333995). Additionally, the SIX1 gene has limited evidence supporting a correlation with autosomal dominant deafness (MedGen UID: 343162)

Synonym(s): HPE2

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

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): 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): 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).

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): DPC4; JIP; MADH4; MYHRS

The SMAD4 gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518) and hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 331400).

Synonym(s): AOVD2; HsT17432; MADH6; MADH7

The SMAD6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant aortic valve disease type 2 (AOVD2) (MedGen UID: 762200) and syndromic structural heart defects (PMID: 22275001).

Synonym(s): BAF190; BAF190A; BRG1; CSS4; MRD16; RTPS2; SNF2; SNF2L4; SNF2LB; SWI2; hSNF2b

The SMARCA4 gene is associated with an increased risk of autosomal dominant small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) (PMID: 24658002, 24658001). Additionally, the SMARCA4 gene has preliminary evidence supporting a correlation with autosomal dominant rhabdoid tumor predisposition syndrome type 2 (RTPS2) (MedGen UID: 413749).

Synonym(s): BAF47; CSS3; INI1; MRD15; PPP1R144; RDT; RTPS1; SNF5; SNF5L1; SWNTS1; Sfh1p; Snr1; hSNFS

The SMARCB1 gene is associated with autosomal dominant rhabdoid tumor predisposition syndrome 1 (RTPS1) (MedGen UID: 322892) and schwannomatosis (MedGen UID: 234775).

Synonym(s): BAF57; CSS5

The SMARCE1 gene is associated with autosomal dominant familial meningioma (MedGen UID: 232281), and there is preliminary evidence supporting a correlation with autosomal dominant Coffin-Siris syndrome (PMID: 22426308, 23906836).

Synonym(s): CDLS2; DXS423E; SB1.8; SMC1; SMC1L1; SMC1alpha; SMCB

The SMC1A gene is associated with X-linked dominant Cornelia de Lange syndrome (MedGen UID: 315658).

Synonym(s): BAM; BMH; CDLS3; CSPG6; HCAP; SMC3L1

The SMC3 gene is associated with autosomal dominant Cornelia de Lange syndrome (MedGen UID: 339902).

Synonym(s): GF1; GGF1; GINGF; HGF; NS4

The SOS1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 339908).

Synonym(s): ANOP3; MCOPS3

The SOX2 gene is associated with autosomal dominant syndromic microphthalmia (MedGen UID: 347232)

Synonym(s): CMD1; CMPD1; SRA1; SRXX2; SRXY10

The SOX9 gene is associated with autosomal dominant campomelic dysplasia (MedGen UID: 354620).

Synonym(s): CILD28; CT140; HEL-S-268; HSD-3.8; SP75; TPIS

The SPAG1 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 816036).

Synonym(s): PCTT; PSTI; Spink3; TATI; TCP

The SPINK1 gene is associated with autosomal dominant predisposition to hereditary pancreatitis (MedGen UID: 116056).

Synonym(s): NFLS; PPP1R147; hSpred1; spred-1

The SPRED1 gene is associated with autosomal dominant Legius syndrome (MedGen UID: 370709).

Synonym(s): EIEE5; NEAS; SPTA2

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

The SRD5A2 gene is associated with autosomal recessive steroid 5-alpha-reductase deficiency (MedGen UID: 75667).

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).

SRY
Synonym(s): SRXX1; SRXY1; TDF; TDY

The SRY gene is associated with disorders of sex development (MedGen UID: 412662, 411324).

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).

Synonym(s): hLKB1; LKB1; PJS

The STK11 gene is associated with autosomal dominant Peutz-Jeghers syndrome (PJS) (MedGen UID: 18404).

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

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

Synonym(s): PRO1280; SUFUH; SUFUXL

The SUFU gene is associated with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS) (MedGen UID: 2554), and medulloblastoma (MedGen UID: 7517). Additionally, there is preliminary evidence supporting a correlation with susceptibility to meningioma (MedGen UID: 232281).

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): 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
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): HOS

The TBX5 gene is associated with autosomal dominant Holt-Oram syndrome (MedGen UID: 120524).

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): MFD1; TCS; TCS1; treacle

The TCOF1 gene is associated with autosomal dominant Treacher Collins syndrome 1 (MedGen UID: 468517).

Synonym(s): JBTS13; TECT1

The TCTN1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 481661).

Synonym(s): C12orf38; JBTS24; MKS8; TECT2

The TCTN2 gene is associated with autosomal recessive ciliopathies including Meckel syndrome (MedGen UID: 450186) and Joubert syndrome (MedGen UID: 833652).

Synonym(s): CATC4; PCTAIRE2BP; TRAP

The TDRD7 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal recessive congenital cataracts (PMID: 21436445).

Synonym(s): DKCA1; hTR; PFBMFT2; SCARNA19; TR; TRC3

The TERC gene is associated with autosomal dominant dyskeratosis congenita (MedGen UID: 338831).

Synonym(s): CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT; PFBMFT1; TCS1; TP2; TRT

The TERT gene is associated with both autosomal recessive and autosomal dominant dyskeratosis congenita (MedGen UID: 462793), and autosomal dominant idiopathic pulmonary fibrosis (IPF) (MedGen UID: 321462).

Synonym(s): HPE4; TGIF

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

The TMEM127 gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 18419).

Synonym(s): HSPC244

The TMEM216 gene is associated with autosomal recessive ciliopathies including Meckel syndrome (MedGen UID: 351059) and Joubert syndrome (MedGen UID: 334114).

Synonym(s): JBTS6; MECKELIN; MKS3; NPHP11; TNEM67

The TMEM67 gene is associated with autosomal recessive ciliopathies including Meckel-Gruber syndrome (MedGen UID: 335402), Joubert syndrome (MedGen UID: 342805) and related disorder COACH syndrome (MedGen UID: 387879), as well as nephronophthisis (MedGen UID: 462146).

Synonym(s): p53; tumor protein p53; BCC7; LFS1; TRP53

The TP53 gene is associated with autosomal dominant Li-Fraumeni syndrome (LFS) (MedGen UID: 322656).

Synonym(s): AIS; B(p51A); B(p51B); EEC3; KET; LMS; NBP; OFC8; RHS; SHFM4; TP53CP; TP53L; TP73L; p40; p51; p53CP; p63; p73H; p73L

The TP63 gene is associated with autosomal dominant acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome (MedGen UID: 400232), ectrodactyly, ectodermal dysplasia, and and cleft lip/palate syndrome 3 (EEC3) (MedGen UID: 347666), Hay-Wells syndrome (MedGen UID: 98032), limb-mammary syndrome (MedGen UID: 355051), Rapp-Hodgkin syndrome (MedGen UID: 315656), and split-hand/foot malformation (MedGen UID: 343120), collectively known as TP63-related disorders.

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).

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).

Synonym(s): ATD4; IFT139; IFT139B; JBTS11; NPHP12; Nbla10696; SRTD4; THM1

The TTC21B gene is associated with autosomal recessive nephronophthisis 12 (MedGen UID: 462536) and asphyxiating thoracic dystrophy 4 (MedGen UID: 462535).

Synonym(s): BBS8; RP51

The TTC8 gene is associated with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 347181).

Synonym(s): ACS3; BPES2; BPES3; CRS; CRS1; CSO; SCS; TWIST; bHLHa38

The TWIST1 gene is associated with autosomal dominant Saethre-Chotzen syndrome (MedGen UID: 64221). Additionally, the TWIST1 gene has limited evidence supporting a correlation with isolated craniosynostosis (MedGen UID: 468569).

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

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

Synonym(s): HUPF3B; MRX62; MRXS14; RENT3B; UPF3BP1; UPF3BP2; UPF3BP3; UPF3X; Upf3p-X

The UPF3B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked intellectual disability (PMID: 19238151, 22957832), Lujan-Fryns syndrome (LFS) (PMID: 17704778, 19238151), and Opitz-Kaveggia syndrome (OKS) (PMID: 17704778).

V
VHL
Synonym(s): HRCA1; pVHL; RCA1; VHL1

The VHL gene is associated with autosomal dominant von Hippel-Lindau (VHL) syndrome (MedGen UID: 42458), and autosomal recessive familial erythrocytosis, type 2 (MedGen UID: 332974).

VIM
Synonym(s): CTRCT30; HEL113

The VIM gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant congenital cataracts (PMID: 19126778).

Synonym(s): CHS1; COH1

The VPS13B gene is associated with autosomal recessive Cohen syndrome (MedGen UID: 78539).

Synonym(s): CHX10; HOX10; MCOP2; MCOPCB3; RET1

The VSX2 gene is associated with autosomal recessive microphthalmia (MedGen UID: 351204).

W
Synonym(s): BBS15; C2orf86; CHDTHP; FRITZ; FRTZ

The WDPCP gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 461477).

Synonym(s): OODD; SSPS; STHAG4

The WNT10A gene is associated with autosomal recessive types of ectodermal dysplasia (MedGen UID: 208666, 347366) and autosomal dominant tooth agenesis (MedGen UID: 372057).

WRN
Synonym(s): RECQ3; RECQL2; RECQL3

The WRN gene is associated with autosomal recessive Werner syndrome (MedGen UID: 12147).

WT1
Synonym(s): GUD; AWT1; WAGR; WIT-2; NPHS4; EWS-WT1; WT33

The WT1 gene is associated with autosomal dominant Denys-Drash syndrome (MedGen UID: 181980), Wilms tumor (MedGen UID: 447509), WAGR syndrome (MedGen UID: 799414), and Frasier syndrome (MedGen UID: 215533).

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
Synonym(s): APP3; ICP55; NPHPL1

The XPNPEP3 gene is associated with autosomal recessive nephronophthisis-like nephropathy 1 (MedGen UID: 461769)

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

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

Synonym(s): DIH3; FOG2; SRXY9; ZC2HC11B; ZNF89B; hFOG-2

The ZFPM2 gene is associated with diaphragmatic hernia (MedGen UID: 347546). Additionally, the ZFPM2 gene has preliminary evidence supporting a correlation with autosomal dominant tetralogy of Fallot (PMID: 21919901, 20807224, 17309641).

Synonym(s): HPE5

The ZIC2 gene is associated with autosomal dominant holoprosencephaly (HPE) (MedGen UID: 355304).

Synonym(s): HTX; HTX1; VACTERLX; ZNF203

The ZIC3 gene is associated with X-linked recessive VACTERL association with hydrocephaly (MedGen UID: 326815) and X-linked recessive heterotaxy (MedGen UID: 336609).

Synonym(s): BLU; CILD22; FLU

The ZMYD10 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 815873).