Endocrinology

53 genes

Invitae Disorders of Sex Development Panel

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Genetic testing for genes associated with disorders of sex development, characterized by atypical gonadal or anatomical sex development often presenting with abnormalities of external genitalia, abnormalities of internal sex organs, hormonal dysregulation and/or infertility.

1 gene

Invitae Disorders of Female Sex Development Test

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Genetic testing for the SRY gene in individuals with a female karyotype of 46,XX and ambiguous or male genitalia, azoospermia, and absent Müllerian structures.

2 genes

Invitae Androgen Insensitivity Panel

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Genetic testing for two genes, AR and SRD5A2, that are associated with androgen insensitivity syndrome (AIS).

47 genes

Invitae Hypogonadotropic Hypogonadism Panel

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The Invitae Hypogonadotropic Hypogonadism Panel analyzes genes that are associated with hypogonadotropic hypogonadism (HH) due to isolated gonadotropin-releasing hormone deficiency (IGD) or Kallmann syndrome. These disorders result in low concentrations of gonadotropins (luteinizing and follicle-stimulating hormones) and hypogonadism. Some individuals with IGD have an impaired sense of smell; this combination of features is known as Kallmann syndrome. These genes were selected based on the available evidence to date to provide a broad analysis for inherited hypogonadotropic hypogonadism.

68 genes

Invitae Monogenic Obesity Panel

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Genetic testing for genes associated with monogenic obesity.

7 genes

Invitae Hyperparathyroidism Panel

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Genetic testing for 7 genes associated with hereditary hyperparathyroidism (HPT) and parathyroid tumors/cancer.

120 genes

Invitae Hypoglycemia Panel

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Genetic testing for genes associated with hypoglycemia.

28 genes

Invitae Monogenic Diabetes Panel

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Genetic testing for genes associated with syndromic and nonsyndromic causes of monogenic diabetes.

1 gene

Invitae X-Linked Hypophosphatemia Test

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The Invitae X-Linked Hypophosphatemia Test analyzes the PHEX gene, which is associated with the most common genetic form of hypophosphatemia.

17 genes

Invitae Hypophosphatemia Panel

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The genetic forms of hypophosphatemia are heterogeneous conditions which are characterized by abnormal phosphate levels leading to abnormal growth of bones and teeth.

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

  • Clinical Area: Pediatric and Rare Disease
  • Clinical Area: Newborn Screening and Metabolism and Immunology

Gene
A
AAAS

The AAAS gene is associated with autosomal recessive glucocorticoid deficiency with achalasia, also known as achalasia addisonianism alacrimia syndrome (Triple A syndrome) (MedGen UID: 82889).

ABCC8

The ABCC8 gene is associated with both autosomal recessive and autosomal dominant forms of permanent neonatal diabetes mellitus (MedGen UID: 371484) and congenital hyperinsulinism (MedGen UID: 226230).

ABCD1

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

ACAD9

The ACAD9 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 20 (MC1DN20), also referred to as acyl-CoA dehydrogenase 9 (ACAD9) deficiency (MedGen UID: 370195).

ACADM

The ACADM gene is associated with autosomal recessive medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MedGen UID: 65086).

ACADS

The ACADS gene is associated with autosomal recessive short chain acyl-CoA dehydrogenase (SCAD) deficiency (MedGen UID: 90998), a biochemical phenotype which may or may not result in a clinical condition.

ACADSB

The ACADSB gene is associated with autosomal recessive short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency, also known as 2-methylbutyryl-CoA dehydrogenase deficiency (MedGen UID: 355324), a biochemical phenotype which may or may not result in a clinical condition.

ACADVL

The ACADVL gene is associated with autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (MedGen UID: 854382).

ACAT1

The ACAT1 gene is associated with autosomal recessive beta-ketothiolase deficiency (aka mitochondrial acetoacetyl-CoA thiolase deficiency) (MedGen UID: 280689).

ACSF3

The ACSF3 gene is associated with autosomal recessive combined malonic and methylmalonic aciduria (CMAMMA) (PMID: 21841779), a biochemical phenotype which may or may not result in a clinical condition.

ADCY3

The ADCY3 gene is associated with autosomal recessive ADCY3 deficiency (MedGen UID: 1638030). Additionally, the ADCY3 gene has preliminary evidence supporting a correlation with autism spectrum disorder (PMID: 28263302).

ADK

The ADK gene is associated with autosomal recessive adenosine kinase deficiency (MedGen UID: 482011).

AFF4

The AFF4 gene is associated with autosomal dominant CHOPS syndrome (cognitive impairment and coarse facies, heart defects, obesity, pulmonary involvement, short stature and skeletal dysplasia) (MedGen UID: 894554).

AGL

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

AKT2

The AKT2 gene is associated with autosomal dominant hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) (MedGen UID: 343429). Additionally, the AKT2 gene has preliminary evidence supporting a correlation with autosomal dominant diabetes mellitus, type II (MedGen UID: 41523).

ALDOA

The ALDOA gene is associated with autosomal recessive glycogen storage disease (GSD) XII (MedGen UID: 82895).

ALDOB

The ALDOB gene is associated with autosomal recessive hereditary fructose intolerance (MedGen UID: 42105).

ALG3

ALG3 is associated with autosomal recessive ALG3-congenital disorder of glycosylation (CDG-Id) (MedGen UID 322026).

ALG6

The ALG6 gene is associated with autosomal recessive ALG6-congenital disorder of glycosylation (CDG-Ic) (MedGen UID 400469).

ALMS1

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

ALPL

The ALPL gene is associated with autosomal dominant and recessive hypophosphatasia (MedGen UID: 43799).

AMH

The AMH gene is associated with autosomal recessive persistent Müllerian duct syndrome (PMDS) (MedGen UID: 342367). Additionally, the AMH gene has preliminary evidence supporting a correlation with autosomal dominant hypogonadotropic hypogonadism (PMID: 31291191).

AMHR2

The AMHR2 gene is associated with autosomal recessive persistent Mullerian duct syndrome (MedGen UID: 342367).

ANOS1

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

AP2S1

The AP2S1 gene is associated with autosomal dominant familial hypocalciuric hypercalcemia type 3 (FHH3) (MedGen UID: 322173).

APPL1

The APPL1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with maturity onset diabetes of the young (MODY) (PMID: 26073777).

AR

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

ARL6

The ARL6 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) non-syndromic retinitis pigmentosa (RP) (MedGen UID: 462158).

ARX

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

ATRX

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

AXL

The AXL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 87440).

B
B3GLCT

The B3GLCT gene is associated with autosomal recessive Peters-plus syndrome also known as B3GLCT-congenital disorder of glycosylation (Medgen UID: 163204).

BBIP1

The BBIP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 807640).

BBS1

The BBS1 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422452) and non-syndromic retinitis pigmentosa (PMID: 23143442, 27032803, 21520335).

BBS10

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

BBS12

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

BBS2

The BBS2 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422453) and non-syndromic retinitis pigmentosa (RP) (MedGen UID: 906896).

BBS4

The BBS4 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 423627). Additionally, the BBS4 gene has preliminary evidence supporting a correlation with autosomal recessive inherited retinal disease (PMID: 22219648, 26355662).

BBS5

The BBS5 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 856141) and nonsyndromic retinitis pigmentosa (PMID: 28041643, 24154662).

BBS7

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

BBS9

The BBS9 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347182). Additionally, the BBS9 gene has preliminary evidence supporting a correlation with autosomal recessive macular dystrophy (PMID: 28981474).

BCKDHA

The BCKDHA gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).

BCKDHB

The BCKDHB gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).

BDNF

The BDNF gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Wilm’s tumor, aniridia, genitourinary anomalies, Intellectual disability and obesity (WAGRO) syndrome (PMID: 18753648).

BLK

The BLK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with maturity onset diabetes of the young, type 11 (PMID: 28993341, 29439679, 30191644).

C
C8orf37

The C8orf37 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 482675) and retinitis pigmentosa (RP) (MedGen UID: 20551). Additionally, the C8orf37 gene has preliminary evidence supporting a correlation with autosomal recessive Bardet Biedl syndrome (BBS) (PMID: 27008867).

CA5A

The CA5A gene is associated with autosomal recessive carbonic anhydrase VA deficiency (MedGen UID: 816734; PMID: 26913920).

CACNA1C

The CACNA1C gene is associated with autosomal dominant Timothy syndrome (TS), also known as long QT syndrome (LQTS), type 8 (MedGen UID: 331395). The CACNA1C gene has also been associated with a combination of LQTS, hypertrophic cardiomyopathy (HCM) and congenital heart defects (PMID: 26253506). Additionally, the CACNA1C gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome and short QT syndrome (SQTS) (PMID: 17224476).

CACNA1D

The CACNA1D gene is associated with autosomal recessive sinoatrial node dysfunction and deafness (MedGen UID: 766932) and autosomal dominant primary aldosteronism with seizures and neurologic abnormalities (PASNA) (MedGen UID: 815939). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 25620733, 22495309, 22542183).

CASR

The CASR gene is associated with a spectrum of disorders including autosomal dominant familial hypocalciuric hypercalcemia (FHH) (MedGen UID: 369200), autosomal dominant hypocalcemia (ADH) (MedGen UID: 87438), ADH with Bartter syndrome (MedGen UID: 811594), autosomal recessive neonatal severe hyperparathyroidism (NSHPT) (MedGen UID: 331326), and possibly familial isolated hyperparathyroidism (FIHP) (PMID: 14985373, 21521328). Additionally, there is data suggesting CASR is associated with autosomal dominant idiopathic generalized epilepsy (PMID: 18756473) and chronic pancreatitis (PMID: 14641934, 16497624). The evidence, however, is insufficient to make a determination regarding these relationships.

CBX2

The CBX2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive 46,XY sex reversal (PMID: 19361780).

CCDC141

The CCDC141 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 87440).

CCNQ

The CCNQ gene (formerly known as FAM58A) is associated with X-linked dominant STAR syndrome (MedGen UID: 394424).

CDC73

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. There are data suggesting CDC73 may also be associated with autosomal dominant predisposition to malignant uterine tumors (PMID: 23293331, 12434154, 23029104). The evidence, however, is preliminary and insufficient to make a determination regarding this relationship.

CDKN1B

The CDKN1B gene is associated with autosomal dominant multiple endocrine neoplasia type 4 (MEN4) (MedGen UID: 373469).

CDKN1C

The CDKN1C gene is associated with autosomal dominant Beckwith-Wiedemann syndrome (BWS) (MedGen UID: 2562) and IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) (MedGen UID: 337364).

CEP164

The CEP164 gene is associated with a spectrum of autosomal recessive conditions including nephronophthisis (MedGen UID: 762112) and Senior Loken syndrome (PMID: 22863007).

CEP19

The CEP19 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 816654).

CEP290

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).

CHD4

The CHD4 gene is associated with autosomal dominant Sifrim-Hitz-Weiss syndrome (MedGen UID: 934655).

CHD7

The CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567) and Kallmann syndrome (MedGen UID: 765467).

CKAP2L

The CKAP2L gene is associated with autosomal recessive Filippi syndrome (MedGen UID: 163197).

CLCN5

The CLCN5 gene is associated with X-linked Dent disease complex (MedGen UID: 336322).

COG7

The COG7 gene is associated with autosomal recessive COG7-congenital disorder of glycosylation (CDG-IIe) (MedGen UID: 419311).

CPE

The CPE gene is associated with autosomal recessive CPE deficiency (PMID: 26120850). Additionally, the CPE gene has preliminary evidence supporting a correlation with Alzheimer’s disease and depression (PMID: 27922637).

CPT1A

The CPT1A gene is associated with autosomal recessive carnitine palmitoyltransferase I (CPT1) deficiency (MedGen UID: 316820).

CPT2

The CPT2 gene is associated with autosomal recessive carnitine palmitoyltransferase II (CPTII or CPT2) deficiency (MedGen UID: 371584, 322211, 318896). Additionally, the CPT2 gene has preliminary evidence supporting a correlation with autosomal dominant malignant hyperthermia (PMID: 19762733, 10873395).

CREBBP

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.

CTNS

The CTNS gene is associated with autosomal recessive cystinosis, including nephropathic, intermediate and ocular non-nephropathic types (MedGen UIDs: 1207, 347449, 75701).

CUL4B

The CUL4B gene is associated with X-linked recessive Cabezas type intellectual disability syndrome (MedGen UID: 337334).

CYB5A

The CYB5A gene is associated with autosomal recessive methemoglobinemia and ambiguous genitalia (MedGen UID: 925090).

CYP11A1

The CYP11A1 gene is associated with autosomal recessive congenital adrenal insufficiency (MedGen UID: 1643960).

CYP11B1

The CYP11B1 gene is associated with autosomal recessive congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (MedGen UID: 202010) and autosomal dominant familial hyperaldosteronism type I (FH-I) (MedGen UID: 224694).

CYP17A1

The CYP17A1 gene is associated with autosomal recessive congenital adrenal hyperplasia (CAH) (MedGen UID: 82782) and isolated 17, 20-lyase deficiency (MedGen UID: 925090).

CYP19A1

The CYP19A1 gene is associated with autosomal recessive aromatase deficiency (MedGen UID: 743307). Additionally, the CYP19A1 gene has preliminary evidence supporting a correlation with autosomal dominant aromatase excess syndrome (MedGen UID: 409989).

CYP27B1

The CYP27B1 gene is associated with autosomal recessive vitamin D-dependent rickets, type I (VDDR1A) (MedGen UID: 124344).

CYP2R1

The CYP2R1 gene is associated with autosomal recessive vitamin D hydroxylation-deficient rickets type 1B (MedGen UID: 374020). Additionally, the CYP2R1 gene has preliminary evidence supporting a correlation with Vogt-Koyanagi-Harada disease (PMID: 27716192).

CYP7B1

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

D
DBH

The DBH gene is associated with autosomal recessive dopamine beta-hydroxylase deficiency (MedGen UID: 90992).

DBT

The DBT gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).

DDC

The DDC gene is associated with autosomal recessive aromatic L-amino acid decarboxylase (AADC) deficiency (MedGen UID: 220945).

DGUOK

The DGUOK gene is associated with a spectrum of autosomal recessive mitochondrial disorders including mitochondrial DNA depletion syndrome 3 (MTDPS3) (MedGen UID: 462863) and progressive external ophthalmoplegia with mitochondrial DNA deletions 4 (PEOB4) (MedGen UID: 934700).

DHCR7

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

DHH

The DHH gene is associated with autosomal recessive gonadal dysgenesis (MedGen UID: 383876).

DLD

The DLD gene is associated with autosomal recessive dihydrolipoamide dehydrogenase (DLD) deficiency (MedGen UID: 449386).

DMP1

The DMP1 gene is associated with autosomal recessive hypophosphatemic rickets (ARHR) (MedGen UID: 137975).

DMRT1

The DMRT1 gene is associated with autosomal dominant 46,XY gonadal dysgenesis (PMID: 22573722, 20685758, 27711951).

DMXL2

The DMXL2 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 945899). Additionally, the DMXL2 gene has preliminary evidence supporting a correlation with autosomal dominant deafness (MedGen UID: 1621646), as well as a spectrum of autosomal dominant and recessive neurodevelopmental disorders (PMID: 25248098, 28191890, 28856709).

DOLK

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

DUSP6

The DUSP6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 815311).

DYRK1B

The DYRK1B gene is associated with autosomal dominant abdominal obesity-metabolic syndrome 3 (AOMS3) (MedGen UID: 1640883).

E
EIF2AK3

The EIF2AK3 gene is associated with autosomal recessive Wolcott-Rallison syndrome (WRS) (MedGen UID: 140926).

ENO3

The ENO3 gene is associated with autosomal recessive glycogen storage disease (GSD) XIII (MedGen UID: 442873).

ENPP1

The ENPP1 gene is associated with autosomal recessive hypophosphatemic rickets 2 (ARHR2) (MedGen UID: 442380), generalized arterial calcification of infancy type 1 (GACI1) (MedGen UID: 395331), and autosomal dominant Cole disease (COLED) (MedGen UID: 816111). Additionally, the ENPP1 gene has preliminary evidence supporting a correlation with autosomal recessive Cole disease (PMID: 28964717).

EP300

The EP300 gene is associated with autosomal dominant Rubinstein-Taybi syndrome (MedGen UID: 462291).

ERBB4

The ERBB4 gene is associated with autosomal dominant amyotrophic lateral sclerosis 19 (ALS19) (MedGen UID: 811607). Additionally, the ERBB4 gene has preliminary evidence supporting a correlation with chronic kidney disease (PMID: 25893603) and isolated hypogonadotropic hypogonadism (PMID: 30098700).

ESR2

The ESR2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant ovarian dysgenesis (MedGen UID: 215397) and autosomal recessive 46, XY syndromic disorders of sex development (DSD) (PMID: 29261182).

ETFA

The ETFA gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase deficiency (MADD) (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).

ETFB

The ETFB gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase deficiency (MADD) (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).

ETFDH

The ETFDH gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase deficiency (MADD) (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).

F
FAH

The FAH gene is associated with autosomal recessive tyrosinemia type 1 (MedGen UID: 75688).

FAM20C

The FAM20C gene is associated with autosomal recessive Raine syndrome (RNS) (MedGen UID: 342416).

FBN3

The FBN3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (PMID: 29156830) and arthrogryposis (PMID: 26752647).

FBP1

The FBP1 gene is associated with autosomal recessive fructose-1,6-bisphosphatase deficiency (MedGen UID: 42106).

FEZF1

The FEZF1 gene is associated with autosomal recessive hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 863425).

FGF17

The FGF17 gene is associated with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 815313).

FGF23

The FGF23 gene is associated with autosomal dominant hypophosphatemic rickets (ADHR) (MedGen UID: 83346), and autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC) (MedGen UID: 360297).

FGF8

The FGF8 gene is associated with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 765488). Additionally, the FGF8 gene has preliminary evidence supporting a correlation with autosomal dominant and autosomal recessive holoprosencephaly (PMID: 29992659, 27363716).

FGFR1

The FGFR1 gene is associated with autosomal dominant Kallmann syndrome 2 (MedGen UID: 289648), craniosynostosis (MedGen UID: 350148), Hartsfield syndrome (MedGen UID: 335111) and osteoglophonic dysplasia (MedGen UID: 96592). Additionally, the FGFR1 gene has preliminary evidence supporting a correlation with autosomal recessive Kallmann syndrome (PMID: 25394172) and Hartsfield syndrome (PMID: 23812909).

FLAD1

The FLAD1 gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase (MAD) deficiency due to flavin adenine dinucleotide synthetase deficiency (MedGen UID: 934789).

FLRT3

The FLRT3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 815316).

FOXP3

The FOXP3 gene is associated with X-linked recessive immunodysregulation, polyendocrinopathy, and enteropathy (IPEX syndrome) (MedGen UID: 83339).

FRAS1

The FRAS1 gene is associated with autosomal recessive Fraser syndrome (Medgen UID: 82692).

FREM2

The FREM2 gene is associated with autosomal recessive Fraser syndrome (MedGenUID: 1624349).

FSHB

The FSHB gene is associated with autosomal recessive hypogonadotropic hypogonadism without anosmia (MedGen UID: 341603).

G
G6PC

The G6PC gene is associated with autosomal recessive glycogen storage disease type Ia (GSDIa) (MedGen UID: 433536).

GAA

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

GALE

The GALE gene is associated with autosomal recessive epimerase deficiency galactosemia (MedGen UID: 199598). Additionally, the GALE gene has preliminary evidence supporting a correlation with autosomal recessive thrombocytopenia (PMID: 30247636).

GALK1

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

GALT

The GALT gene is associated with autosomal recessive galactosemia (MedGen UID:344772).

GATA4

The GATA4 gene is associated with a spectrum of congenital heart defects including autosomal dominant tetralogy of Fallot (TOF) (MedGen UID: 21498), ventricular septal defects (VSD) (MedGen UID: 482407), atrial septal defects (ASD) (MedGen UID: 334249), and atrioventricular septal defects (AVSD) (MedGen UID: 482411). The GATA4 gene is also associated with autosomal dominant atrial fibrillation (PMID: 21708142). Additionally, the GATA4 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 24041700), congenital diaphragmatic hernia (PMID: 23138528), and neonatal diabetes (PMID: 24696446).

GATA6

The GATA6 gene is associated with autosomal dominant pancreatic agenesis, with or without other clinical features (PMID: 22158542, 24310933). Additionally, there is preliminary evidence supporting a correlation with isolated congenital heart defects (PMID: 28991257), atrial fibrillation (PMID: 22257684) and diabetes mellitus (PMID: 23223019).

GBE1

The GBE1 gene is associated with autosomal recessive glycogen storage disease IV (GSD IV) (MedGen UID: 6642) and autosomal recessive adult polyglucosan body disease (APBD) (MedGen UID: 342338).

GCK

The GCK gene is associated with autosomal dominant hyperinsulinemic hypoglycemia (MedGen UID: 355435), maturity-onset diabetes of the young (MODY) (MedGen UID: 330729) and autosomal recessive premature neonatal diabetes mellitus (PNDM) (MedGen UID: 371484).

GH1

The GH1 gene is associated with autosomal recessive and autosomal dominant forms of growth hormone deficiency (MedGen UID: 90986 and 124405)

GHR

The GHR gene is associated with autosomal recessive Laron syndrome (MedGen UID: 78776) and autosomal dominant growth hormone insensitivity syndrome (GHIS) (MedGen UID: 346958).

GLIS3

The GLIS3 gene is associated with autosomal recessive neonatal diabetes mellitus with congenital hypothyroidism (NDH) (MedGen UID: 347541). Additionally, the GLIS3 gene has preliminary evidence supporting a correlation with Tourette syndrome (PMID: 28472652).

GLUD1

The GLUD1 gene is associated with autosomal dominant familial hyperinsulinism-hyperammonemia (HI/HA) syndrome (MedGen UID: 376153).

GNA11

The GNA11 gene is associated with autosomal dominant hypocalcemia (ADH) (MedGen UID: 815573) and familial hypocalciuric hypercalcemia (FHH) (MedGen UID: 374447).

GNAS

The GNAS gene is associated with autosomal dominant progressive osseous heteroplasia (MedGen UID: 137714), pseudohypoparathyroidism Ia (MedGen UID: 46178), and pseudopseudohypoparathyroidism (MedGen UID: 10995). Somatic mutations in the GNAS gene are associated with McCune-Albright syndrome (MedGen UID: 69164).

GNRH1

The GNRH1 gene is associated with autosomal dominant and autosomal recessive idiopathic hypogonadotropic hypogonadism (IHH) (MedGen UID: 347328, PMID: 27094476).

GNRHR

The GNRHR gene is associated with autosomal recessive idiopathic hypogonadotropic hypogonadism (IHH) (MedGen UID: 87440).

GPC3

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

GPR101

The GPR101 gene is associated with X-linked acrogigantism, which usually results from a common Xq26.3 microduplication that includes GPR101 (MedGen UID: 856021, PMID: 27245663).

GYG1

The GYG1 gene is associated with autosomal recessive polyglucosan body myopathy 2 (PGBM2) (MedGen UID: 863889).

GYS1

The GYS1 gene is associated with autosomal recessive glycogen synthase deficiency, muscle type (GSD 0b, muscle form) (MedGen UID: 409741).

GYS2

The GYS2 gene is associated with autosomal recessive liver glycogen storage disease 0A (GSD 0A, liver isoform) (MedGen UID: 343430).

H
H6PD

The H6PD gene is associated with autosomal recessive cortisone reductase deficiency (MedGen UID: 764630).

HADH

The HADH gene is associated with autosomal recessive medium/short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) (MedGen UID: 266222).

HADHA

The HADHA gene is associated with autosomal recessive long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency (MedGen UID: 778253) and autosomal recessive mitochondrial trifunctional protein (MTP) deficiency (MedGen UID: 370665).

HADHB

The HADHB gene is associated with autosomal recessive mitochondrial trifunctional protein deficiency (MedGen UID: 370665).

HESX1

The HESX1 gene is associated with autosomal recessive and autosomal dominant septo-optic dysplasia (SOD) (MedGen UID: 90926). Additionally, the HESX1 gene has preliminary evidence supporting a correlation with autosomal dominant idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS) (PMID: 23465708).

HHAT

The HHAT gene is associated with autosomal recessive skeletal dysplasia, microcephaly, and cerebellar vermis hypoplasia, with or without 46, XY disorder of sex development (PMID: 24784881, 30912300).

HK1

The HK1 gene is associated with autosomal recessive hexokinase deficiency (MedGen UID: 461693), autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 1386200), and an autosomal dominant neurodevelopmental syndrome (MedGen UID: 1684774). Additionally, the HK1 gene has preliminary evidence supporting a correlation with autosomal dominant hexokinase deficiency (PMID: 27282571) and autosomal recessive Charcot-Marie-Tooth 4A (CMT4A) (PMID: 23996628).

HMGCL

The HMGCL gene is associated with autosomal recessive 3-hydroxy-3-methylglutaryl (3HMG)-CoA lyase deficiency (MedGen UID: 78692 ).

HMGCS2

The HMGCS2 gene is associated with autosomal recessive 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase deficiency (MedGen UID: 414399).

HNF1A

The HNF1A gene is associated with autosomal dominant maturity-onset diabetes of the young 3 (MODY3) (MedGen UID: 324942). Additionally, the HNF1A gene has preliminary evidence supporting a correlation with autosomal dominant renal tubular proteinuria (PMID: 27083284).

HNF1B

The HNF1B gene is associated with autosomal dominant renal cysts and diabetes syndrome (MedGen UID: 755090).

HNF4A

The HNF4A gene is associated with autosomal dominant familial hyperinsulinism (MedGen UID: 854723) and maturity-onset diabetes of the young (MODY) (MedGen UID: 377589).

HOXA13

The HOXA13 gene is associated with autosomal dominant hand-foot genital syndrome (MedGen UID: 331103) and Guttmacher syndrome (MedGen UID: 401304).

HRAS

The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454).

HS6ST1

The HS6ST1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 766891).

HSD17B3

The HSD17B3 gene is associated with autosomal recessive 17-beta hydroxysteroid dehydrogenase 3 deficiency (MedGen UID: 120626).

HSD3B2

The HSD3B2 gene is associated with autosomal recessive 3-beta-hydroxysteroid dehydrogenase deficiency (MedGen UID: 452446).

HSD3B7

The HSD3B7 gene is associated with autosomal recessive congenital bile acid synthesis defect type 1 (MedGen UID: 335883).

I
IER3IP1

The IER3IP1 gene is associated with autosomal recessive microcephaly, epilepsy, and diabetes syndrome (MEDS) (MedGen UID: 481870).

IFT172

The IFT172 gene is associated with autosomal recessive Bardet-Biedl syndrome (PMID: 26763875), short-rib thoracic dysplasia 10 with or without polydactyly (MedGen UID: 816505), and non-syndromic retinitis pigmentosa (PMID: 25168386).

IFT27

The IFT27 gene is associated with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 855173).

IFT74

The IFT74 gene is associated with autosomal recessive Joubert syndrome (PMID: 33531668). Additionally, the IFT74 gene has preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 934674), autosomal recessive asphyxiating thoracic dystrophy (ATD) (PMID: 33875766), autosomal dominant amyotrophic lateral sclerosis (ALS) (PMID: 17166276), and autosomal recessive multiple morphological abnormalities of the sperm flagella (MMAF) (PMID: 33770252).

IGSF10

The IGSF10 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypogonadotropic hypogonadism with or without anosmia (PMID: 31042289) and delayed growth and puberty (PMID: 27137492).

IL17RD

The IL17RD gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 815305).

INS

The INS gene is associated with autosomal dominant maturity-onset diabetes of the young type 10 (MODY10) (MedGen UID: 461967), permanent neonatal diabetes mellitus (PNDM) (MedGen UID: 371484) and autosomal recessive PNDM (MedGen UID: 371484). Additionally, the INS gene has preliminary evidence supporting a correlation with autosomal dominant hyperproinsulinemia (MedGen UID: 137967).

INSR

The INSR gene is associated with autosomal dominant familial hyperinsulinism (MedGen UID: 355335), autosomal recessive Donohue syndrome (also known as Lephrechaunism) (MedGen UID: 82708) and Rabson-Mendenhall syndrome (MedGen UID: 78783).

J
K
KCNJ11

The KCNJ11 gene is associated with autosomal recessive familial hyperinsulinism (MedGen UID: 419505), autosomal dominant familial hyperinsulinism (PMID: 18596924, 9259578, 21185999) and autosomal dominant KCNJ11-related early onset diabetes (MedGen UID: 371484). Additionally, the KCNJ11 gene has preliminary evidence supporting a correlation with type 2 diabetes mellitus (PMID: 9867219, 11318841, 12540637, 22082043, 15784703).

KDM6A

The KDM6A gene is associated with X-linked dominant Kabuki syndrome (MedGen UID: 477126).

KIDINS220

The KIDINS220 gene is associated with autosomal dominant spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) (MedGen UID: 924883). The KIDINS220 gene is also associated with an autosomal recessive congenital contracture syndrome (PMID: 28934391).

KIF7

The KIF7 gene is associated with autosomal recessive acrocallosal syndrome (MedGen UID: 162915), hydrolethalus syndrome (MedGen UID: 481529) and Joubert syndrome (MedGen UID: 162915).

KISS1

The KISS1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant and autosomal recessive hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 762090).

KISS1R

The KISS1R gene is associated with autosomal recessive hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 766755).

KL

The KL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive tumoral calcinosis (PMID: 17710231) and autosomal dominant differences in sex development (PMID: 28446957).

KLB

The KLB gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (PMID: 28754744).

KLF11

The KLF11 gene is associated with autosomal dominant maturity onset diabetes of the young (MODY) (MedGen UID: 87433).

KMT2D

The KMT2D gene is associated with autosomal dominant Kabuki syndrome (MedGen UID: 893727) and a multiple malformations disorder (PMID: 31949313). Additionally, the KMT2D gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart disease (MedGen UID: 57501) and with autosomal dominant holoprosencephaly (PMID: 31282990).

KSR2

The KSR2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with non-syndromic obesity (PMID:24209692).

L
LAMP2

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

LDHA

The LDHA gene is associated with autosomal recessive lactate dehydrogenase A (LDHA) deficiency (MedGen UID: 416688).

LEP

The LEP gene is associated with autosomal recessive leptin dysfunction (MedGen: 767138).

LEPR

The LEPR gene is associated with autosomal recessive leptin receptor deficiency (MedGen UID: 767139).

LHB

The LHB gene is associated with autosomal recessive hypogonadotropic hypogonadism (HH) due to isolated luteinizing hormone (LH) deficiency (MedGen UID: 82881).

LHCGR

The LHCGR gene is associated with autosomal recessive Leydig cell hypoplasia (LCH) (MedGen UID: 120576) and autosomal dominant precocious puberty (MedGen UID: 87444).

LHX3

The LHX3 gene is associated with autosomal recessive combined pituitary hormone deficiency (CPHD) (MedGen UID: 341749).

LHX4

The LHX4 gene is associated with autosomal dominant combined pituitary hormone deficiency (MedGen UID: 394816).

LMNA

The LMNA gene is associated with a spectrum of distinct and overlapping conditions collectively termed the laminopathies. Laminopathies which primarily affect the striated muscles include autosomal dominant Emery-Dreifuss muscular dystrophy type 2 (EDMD2), sometimes referred to as limb-girdle muscular dystrophy type 1B (LGMD1B) (MedGen UID: 98048), congenital muscular dystrophy (CMD) (MedGen UID: 413043), and dilated cardiomyopathy (DCM) (MedGen UID: 258500), along with autosomal recessive Emery-Dreifuss muscular dystrophy type 3 (EDMD3) (MedGen UID: 413212). Laminopathies which primarily affect the peripheral nervous system include autosomal recessive Charcot-Marie-Tooth disease type 2B1 (CMT2B1) (MedGen UID: 343064). Syndromic laminopathies affecting multiple systems include autosomal dominant and recessive lipodystrophy (MedGen UID: 354526, 1684630) and Hutchinson-Gilford progeria syndrome (HGPS) (MedGen UID: 46123). Other conditions have also been reported (OMIM: 150330).

LZTFL1

The LZTFL1 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 811538).

M
MAGEL2

The MAGEL2 gene is associated with autosomal dominant Schaaf-Yang syndrome (MedGen UID: 816207).

MAMLD1

The MAMLD1 gene is associated with X-linked hypospadias (MedGen UID: 437064) and 46,XY disorders of sex development (PMID: 22479329, 27899157).

MAP3K1

The MAP3K1 gene is associated with autosomal dominant 46,XY disorder of sex development (DSD) (MedGen UID: 462414).

MC3R

The MC3R gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with severe childhood obesity (PMID: 17639020, 20539302).

MC4R

The MC4R gene is associated with autosomal dominant and autosomal recessive obesity due to melanocortin 4 receptor deficiency (MedGen UID: 903905).

MEGF8

The MEGF8 gene is associated with autosomal recessive Carpenter syndrome (MedGen UID: 767161).

MEN1

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). It has also been suggested that MEN1 may be associated with autosomal dominant predisposition to thyroid cancer (PMID: 22723327) and hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (PMID: 1352309, 8678766, 9735087, 12016472, 22084155). The evidence, however, is preliminary and insufficient to make a determination regarding these relationships.

MKKS

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

MKS1

The MKS1 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).

MLYCD

The MLYCD gene is associated with autosomal recessive malonyl-CoA decarboxylase deficiency (MedGen UID: 91001).

MNX1

The MNX1 gene is associated with autosomal dominant Currarino syndrome (MedGen UID: 323460). Additionally, the MNX1 gene has preliminary evidence supporting a correlation with autosomal recessive neonatal diabetes mellitus (PMID: 24411943).

MPI

The MPI gene is associated with autosomal recessive MPI-congenital disorder of glycosylation (CDG-Ib) (MedGen UID 400692).

MPV17
MRAP2
N
NADK2

The NADK2 gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive 2,4-dienoyl-CoA reductase deficiency (DECRD) (PMID: 29388319, 2332510).

NEUROD1

The NEUROD1 gene is associated with autosomal dominant maturity onset diabetes of the young type 6 (MODY6) (MedGen UID: 344030) and autosomal recessive permanent neonatal diabetes with neurological abnormalities (PMID: 20573748). Additionally, the NEUROD1 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (PMID: 25477324).

NEUROG3

The NEUROG3 gene is associated with autosomal recessive congenital malabsorptive diarrhea (MedGen UID: 372151).

NKX2-2

The NKX2-2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with neonatal diabetes and developmental delays (PMID: 24411943, 23771172).

NLGN2

The NLGN2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with anxiety, autism, intellectual disability, hyperphagia and obesity (PMID: 27865048).

NNT

The NNT gene is associated with autosomal recessive glucocorticoid deficiency (GCCD) type 4 (MedGen UID: 766501).

NPY
NR0B1

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

NR0B2
NR3C1

The NR3C1 gene is associated with autosomal dominant glucocorticoid resistance (MedGen UID: 333960).

NR5A1

The NR5A1 gene is associated with autosomal dominant disorders of sex development (MedGen UID: 483746, 1373282), adrenocortical insufficiency (MedGen UID: 912698), spermatogenic failure (MedGen UID: 140793), and premature ovarian failure (MedGen UID: 38820).

NSD1

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

NSMF

The NSMF gene is associated with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 766756).

NTRK2

The NTRK2 gene is associated with autosomal dominant obesity, hyperphagia, and developmental delay (OBHD) (MedGen UID: 462653) and early infantile epileptic encephalopathy (EIEE) (MedGen UID: 1646861).

O
OCRL

The OCRL gene is associated with X-linked recessive Lowe syndrome (MedGen UID: 18145) and Dent disease (MedGen UID: 931198).

OPLAH

The OPLAH gene is associated with autosomal recessive 5-oxoprolinase deficiency (MedGen UID: 82814).

OTX2

The OTX2 gene is associated with a spectrum of autosomal dominant OTX2-related disorders, including microphthalmia, anophthalmia, coloboma (MAC) spectrum (MedGen UID: 468558), Leber congenital amaurosis (LCA) (PMID: 29343940, 27422788, 29588463) and agnathia-otocephaly complex (PMID: 27442045, 22577225). Additionally, the OTX2 gene has preliminary evidence supporting a correlation with autosomal dominant pituitary hormone deficiency (MedGen UID: 462790).

OXCT1

The OXCT1 gene is associated with autosomal recessive succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency (MedGen UID: 137979).

P
PAX4

The PAX4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with maturity-onset diabetes of the young, type 9 (MODY9) (MedGen UID: 87433).

PC

The PC gene is associated with autosomal recessive pyruvate carboxylase (PC) deficiency (MedGen UID: 18801).

PCK1

The PCK1 gene is associated with autosomal recessive cytosolic phosphoenolpyruvate carboxykinase deficiency (PCKDC) (MedGen UID: 342359).

PCK2

The PCK2 gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive phosphoenolpyruvate carboxykinase deficiency (PMID: 24215330).

PCSK1

The PCSK1 gene is associated with autosomal recessive obesity due to prohormone convertase I deficiency (MedGen UID: 928547).

PDX1

The PDX1 gene is associated with autosomal dominant maturity onset diabetes of the young (MODY) (MedGen UID: 318863), and autosomal recessive permanent neonatal diabetes mellitus (PNDM) (MedGen UID: 371484).

PFKM

The PFKM gene is associated with autosomal recessive glycogen storage disease type VII (GSD7) (MedGen UID: 5342).

PGAM2

The PGAM2 gene is associated with autosomal recessive glycogen storage disease type X (GSD X) (MedGen UID: 120613).

PGM1

PGM1 is associated with autosomal recessive PGM1-congenital disorder of glycosylation (CDG-It) (MedGen UID 766970).

PHEX

The PHEX gene is associated with X-linked hypophosphatemia (XLH) (MedGen UID: 196551).

PHF6

The PHF6 gene is associated with X-linked Borjeson-Forssman-Lehmann syndrome (MedGen UID: 78557) and Coffin-Siris syndrome (PMID: 24092917, 25099957).

PHGDH

The PHGDH gene is associated with autosomal recessive phosphoglycerate dehydrogenase deficiency (MedGen UID: 400935), which includes Neu-Laxova syndrome (NLS) (MedGen UID: 833709).

PHKA1

The PHKA1 gene is associated with X-linked recessive glycogen storage disease type IXd (GSD IXd) (MedGen UID: 335112).

PHKA2

The PHKA2 gene is associated with X-linked recessive glycogen storage disease type IXa (GSD IXa) (MedGen UID: 42261).

PHKB

The PHKB gene is associated with autosomal recessive glycogen storage disease type IXb (GSD IXb) (MedGen UID: 337918).

PHKG2

The PHKG2 gene is associated with autosomal recessive glycogen storage disease, type IXc (GSD IXc) (MedGen UID: 442778).

PLXNA1

The PLXNA1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal dominant developmental disorder and autism (PMID: 28135719, 28191890).

PMM2

The PMM2 gene is associated with autosomal recessive PMM2-congenital disorder of glycosylation (CDG-Ia) (MedGen UID 138111).

POLR3B

The POLR3B gene is associated with autosomal recessive hypomyelinating leukodystrophy 8 (HLD8), with or without oligodontia and/or hypogonadotropic hypogonadism (MedGen UID: 482274), and autosomal dominant ataxia, spasticity, and demyelinating neuropathy (PMID: 33417887).

POMC

The POMC gene is associated with autosomal recessive proopiomelanocortin deficiency (MedGen UID: 341863).

POR

The POR gene is associated with autosomal recessive cytochrome P450 oxidoreductase deficiency (POR) deficiency (MedGen UID: 461449).

PPARG

The PPARG gene is associated with autosomal dominant familial partial lipodystrophy type 3 (FPLD3) (MedGen UID: 328393). Additionally, the PPARG gene has preliminary evidence supporting a correlation with an increased risk for type 2 diabetes (PMID: 25157153).

PRMT7

The PRMT7 gene is associated with autosomal recessive short stature, brachydactyly, intellectual developmental disability, and seizures (SBIDDS) (MedGen UID: 934656).

PROK2

The PROK2 gene is associated with autosomal recessive hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 765257).

PROKR2

The PROKR2 gene is associated with autosomal recessive Kallmann syndrome (MedGen UID: 763392). Additionally, the PROKR2 gene has preliminary evidence supporting a correlation with autosomal dominant Kallmann syndrome (PMID: 17054399, 23643382).

PROP1

The PROP1 gene is associated with autosomal recessive combined pituitary hormone deficiency (MedGen UID: 209236).

PSMC3IP

The PSMC3IP gene is associated autosomal recessive primary ovarian insufficiency (MedGen UID: 482101).

PTF1A

The PTF1A gene is associated with autosomal recessive pancreatic agenesis (MedGen UID: 863174) and pancreatic and cerebellar agenesis (MedGen UID: 332288).

PYGL

The PYGL gene is associated with autosomal recessive glycogen storage disease type VI (GSD VI) (MedGen UID: 6643).

PYGM

The PYGM gene is associated with autosomal recessive glycogen storage disease type V (GSD V), also known as McArdle disease (MedGen UID: 5341).

Q
R
RAB23

The RAB23 gene is associated with autosomal recessive Carpenter syndrome (MedGen UID: 1644017).

RAI1

The RAI1 gene is associated with autosomal dominant Smith-Magenis syndrome (MedGen UID: 162881), which usually results from a common 17p11.2 microdeletion that includes RAI1, as well as autosomal dominant Potocki-Lupski syndrome (PTLS) (MedGen UID: 894862), which usually results from a common 17p11.2 duplication that includes RAI1. Additionally, the RAI1 gene has preliminary evidence supporting a correlation with autosomal recessive non-syndromic deafness (PMID: 27082237).

RBCK1

The RBCK1 gene is associated with autosomal recessive polyglucosan body myopathy with or without immunodeficiency (PGBM1) (MedGen UID: 863042).

RELN

The RELN gene is associated with autosomal recessive lissencephaly (MedGen UID: 163213) and autosomal dominant lateral temporal lobe epilepsy (ADLTE) (MedGen UID: 907609).

RET

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

RFX6

The RFX6 gene is associated with autosomal recessive Mitchell-Riley syndrome (MedGen UID: 411637).

RNF216

The RNF216 gene is associated with autosomal recessive Gordon Holmes syndrome (MedGen UID: 349137).

RPS6KA3

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

RSPO1

The RSPO1 gene is associated with autosomal recessive palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal (MedGen UID: 461281).

S
SCLT1

The SCLT1 gene is associated with autosomal recessive orofaciodigital syndrome IX (OFD9) (PMID: 24285566, 27894351) and autosomal recessive nonsyndromic retinitis pigmentosa (PMID: 28005958). Additionally, the SCLT1 gene has preliminary evidence supporting a correlation with autosomal recessive Senior-Loken syndrome (PMID: 30425282).

SDCCAG8

The SDCCAG8 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and Senior-Loken syndrome (MedGen UID: 462227).

SEMA3A

The SEMA3A gene is associated with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 766935) and autosomal recessive syndromic short stature (PMID: 24124006, 28075028, 33369061).

SERAC1

The SERAC1 gene is associated with autosomal recessive 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like (MEGDEL) syndrome (MedGen UID: 766511).

SETD2

The SETD2 gene is associated with autosomal dominant Luscan-Lumish syndrome (LLS) (MedGen UID: 898669). Additionally, the SETD2 gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 24901346, 26084711, 23160955).

SH2B1

The SH2B1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autism spectrum disorder (PMID: 25363768, 25661985), obesity (PMID: 24971614, 23160192, 29216354, 17235396 ) and other SH2B1-related conditions (PMID: 30803986, 29073591).

SIM1
SLC16A1

The SLC16A1 gene is associated with autosomal dominant and recessive monocarboxylate transporter 1 deficiency (MCT1D) (MedGen UID: 863623). Additionally, the SLC16A1 gene has preliminary evidence supporting a correlation with autosomal dominant exercise-induced hyperinsulinemic hypoglycemia (HHF7) (MedGen UID: 351246) and erythrocyte lactate transporter defect (MedGen UID: 344529).

SLC19A2

The SLC19A2 gene is associated with autosomal recessive thiamine-responsive megaloblastic anemia (MedGen UID: 83338).

SLC22A5

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

SLC25A20

The SLC25A20 gene is associated with autosomal recessive carnitine-acylcarnitine translocase (CACT) deficiency (MedGen UID: 91000).

SLC25A32

The SLC25A32 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive riboflavin-responsive exercise intolerance (RREI) (MedGen UID: 896368).

SLC2A2

The SLC2A2 gene is associated with autosomal recessive Fanconi-Bickel syndrome (MedGen UID: 501176).

SLC34A1

The SLC34A1 gene is associated with autosomal recessive infantile hypercalcemia (MedGen UID: (934441). Additionally, the SLC34A1 gene has preliminary evidence supporting a correlation with autosomal dominant hypophosphatemic nephrolithiasis/osteoporosis (MedGen UID: 436776) and autosomal recessive fanconi renotubular syndrome (MedGen UID: 462002).

SLC34A3

The SLC34A3 gene is associated with autosomal recessive hereditary hypophosphatemic rickets with hypercalciuria (HHRH) (MedGen UID: 501133). Additionally, the SLC34A3 gene has preliminary evidence supporting a correlation with hypercalciuria with reduced penetrance (PMID: 16358214, 22387237, 29809158).

SLC37A4

The SLC37A4 gene is associated with autosomal recessive glycogen storage disease type Ib (GSD Ib) (MedGen UID: 78644).

SLC52A1

The SLC52A1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant riboflavin transporter deficiency (MedGen UID: 20573).

SLC52A2

The SLC52A2 gene is associated with autosomal recessive riboflavin transporter deficiency neuronopathy (also known as Brown-Vialetto-Van Laere syndrome 2 [BVVLS2]) (MedGen UID: 766452).

SLC52A3

The SLC52A3 gene is associated with autosomal recessive riboflavin transporter deficiency neuronopathy (also known as Brown-Vialetto-Van Laere syndrome 1 [BVVLS1]) (MedGen UID: 881160).

SOX10

The SOX10 gene is associated with autosomal dominant Waardenburg syndrome type 4C and 2E (MedGen UID: 413310 and 398476), Kallman syndrome (PMID: 33442024), and PCWH (peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease) syndrome (MedGen UID: 373160).

SOX2

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

SOX3

The SOX3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked panhypopituitarism with intellectual disability (MedGen UID: 394771).

SOX9

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

SPECC1L

The SPECC1L gene is associated with a spectrum of autosomal dominant conditions including Teebi hypertelorism syndrome (MedGen UID: 208673) and Opitz GBBB syndrome (MedGen UID: 321463).

SPRY4

The SPRY4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypogonadotropic hypogonadism (PMID: 31200363).

SRA1

The SRA1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with idiopathic hypogonadotropic hypogonadism (IHH) (PMID: 27086651).

SRD5A2

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

SRY

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

STAR

The STAR gene is associated with autosomal recessive congenital lipoid adrenal hyperplasia (MedGen UID: 83341).

T
TAC3

The TAC3 gene is associated with autosomal recessive idiopathic hypogonadotropic hypogonadism (IHH) (MedGen UID: 766757).

TACR3

The TACR3 gene is associated with autosomal recessive hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 766758).

TAZ

The TAZ gene is associated with X-linked recessive Barth Syndrome (BTHS), also known as 3-methylglutaconic aciduria type II (MedGen UID: 107893). Additionally, there is preliminary evidence supporting an association with X-linked recessive dilated cardiomyopathy (DCM) (MedGen UID: 2880) and left ventricular noncompaction cardiomyopathy (MedGen UID: 349005).

TBX19

The TBX19 is associated with autosomal recessive isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) (MedGen UID: 82882).

TNK2

The TNK2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with infantile onset epilepsy (PMID: 23686771, 27977884) and Mayer-Rokitansky-Kuster-Hauser syndrome (PMID: 31517310).

TOE1

The TOE1 gene is associated with autosomal recessive pontocerebellar hypoplasia (MedGen UID: 767140).

TRAPPC3

The TRAPPC3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (PMID: 27894351).

TRAPPC9

The TRAPPC9 gene is associated with autosomal recessive intellectual disability (ID) (MedGen UID: 442564).

TRIM32

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).

TRMT10A

The TRMT10A gene is associated with autosomal recessive microcephaly, short stature, and impaired glucose metabolism (MSSGM) (MedGen UID: 863434).

TSPYL1

The TSPYL1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with sudden infant death with dysgenesis of the testes syndrome (PMID: 15273283).

TTC8

The TTC8 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347181) and nonsyndromic retinitis pigmentosa (MedGen UID: 462065).

TWIST2

The TWIST2 gene is associated with autosomal dominant Barber-Say syndrome (MedGen UID: 230818) and Ablepharon macrostomia syndrome (MedGen UID: 395439), and autosomal recessive focal facial dermal dysplasia, Setleis type (MedGen UID: 315643).

U
UBR1

The UBR1 gene is associated with autosomal recessive Johanson-Blizzard syndrome (MedGen UID: 59798).

UCP2

The UCP2 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant familial hyperinsulinism (MedGen UID: 928751).

UCP3
V
VDR

The VDR gene is associated with autosomal recessive vitamin D-dependent rickets type 2A (VDDR2A) (MedGen UID: 90989). Additionally, the VDR gene has preliminary evidence supporting a correlation with autosomal dominant rickets (PMID: 21812032).

VPS13B

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

W
WDPCP

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

WDR11

The WDR11 gene is associated with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 761703). Additionally, the WDR11 gene has preliminary evidence supporting a correlation with disorders of sexual development (PMID: 27899157).

WFS1

The WFS1 gene is associated with autosomal recessive Wolfram syndrome (MedGen UID: 1641635) and autosomal dominant Wolfram-like syndrome (MedGen UID: 481988) and nonsyndromic low-frequency sensorineural deafness (MedGen UID: 331419). Additionally, the WFS1 gene has preliminary evidence supporting a correlation with cerebellar ataxia (PMID: 25133958) and autosomal dominant congenital cataracts (MedGen UID: 811742).

WNT4

The WNT4 gene is associated with autosomal dominant Mullerian aplasia and hyperandrogenism (MedGen UID: 390686). Additionally, the WNT4 gene has preliminary evidence supporting a correlation with autosomal recessive SERKAL syndrome (MedGen UID: 394528).

WNT9B

The WNT9B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Mayer-Rokitansky-Küster-Hauser syndrome (PMID: 26610373, 24268733).

WT1

The WT1 gene is associated with autosomal dominant Denys-Drash syndrome (MedGen UID: 181980), Wilms tumor predisposition syndrome (MedGen UID: 447509), WAGR syndrome (MedGen UID: 64512) and Frasier syndrome (MedGen UID: 215533).

WWOX

The WWOX gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 863956) and spinocerebellar ataxia 12 (SCAR12) (MedGen UID: 482082). Additionally, the WWOX gene has preliminary evidence supporting a correlation with disorders of sex development (PMID: 28130116, 22071891).

X
Y
Z
ZFP57

The ZFP57 gene is associated with autosomal recessive transient neonatal diabetes mellitus 1 (TNDM1) (MedGen UID 371317).

ZFPM2

The ZFPM2 gene is associated with autosomal dominant diaphragmatic hernia (MedGen UID: 347546) and autosomal dominant disorders of sex development (MedGen UID: 863566) . Additionally, the ZFPM2 gene has preliminary evidence supporting a correlation with autosomal dominant tetralogy of Fallot (PMID: 21919901, 20807224, 17309641).