Nephrology

13 genes

Invitae Atypical Hemolytic Uremic Syndrome and Thrombotic Microangiopathies Panel

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The Invitae Atypical Hemolytic Uremic Syndrome and Thrombotic Microangiopathies Panel analyzes genes which are associated with thrombotic microangiopathies, including atypical hemolytic uremic syndrome and thrombotic thrombocytopenic purpura. These conditions are characterized by hemolytic anemia, thrombocytopenia, and kidney damage which may progress to kidney failure.

111 genes

Invitae Neonatal Respiratory Distress Panel

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Genetic testing for genes associated with conditions that present with respiratory distress, a common breathing problem in newborns, which is often characterized by rapid, shallow breathing, nasal flaring, chest retractions, or grunting.

174 genes

Invitae Ciliopathies Panel

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The Invitae Ciliopathies Panel analyzes genes that are associated with ciliopathy syndromes, a class of disorders that share many symptoms, including renal disease, eye defects, intellectual disability, diabetes, obesity, situs inversus, polydactyly, and a variety of skeletal dysplasias. These genes were selected based on the available evidence to date to provide a broad analysis for inherited ciliopathies.

72 genes

Invitae Perinatal Lethal Skeletal Dysplasia and Skeletal Ciliopathies Panel

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The Invitae Perinatal Lethal Skeletal Dysplasia and Skeletal Ciliopathies Panel analyzes genes that are associated with disorders causing skeletal dysplasia often resulting in perinatal death, which are characterized by abnormal growth and skeletal development.

up to 44 genes

Invitae Primary Ciliary Dyskinesia Panel

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Genetic testing for genes which are associated with primary ciliary dyskinesia (PCD) and cystic fibrosis. These disorders result in respiratory disease, which can include respiratory tract infections, neonatal respiratory distress, and/or other lung-related complications. Additional manifestations of these disorders may include situs inversus or heterotaxy, abnormal sperm motility, or congenital absence of the vas deferens (resulting in male infertility).

28 genes

Invitae Bardet-Biedl Syndrome Panel

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The Invitae Bardet-Biedl Syndrome Panel analyzes genes that are associated with Bardet-Biedl Syndrome (BBS), which is characterized by truncal obesity, cognitive impairment rod-cone dystrophy, and renal abnormalities. These genes were selected based on the available evidence to date to provide a broad analysis for BBS.

31 genes

Invitae Joubert and Meckel-Gruber Syndromes Panel

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Genetic testing for 31 genes associated with Joubert syndrome and related disorders (JSRD) and Meckel-Gruber syndrome (MKS). These syndromes are characterized by congenital brain malformations, renal disease, retinal dystrophies, and oral-facial-digital features.

27 genes

Invitae Nephronophthisis Panel

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Genetic testing for 27 genes associated with nephronophthisis (NPHP), a condition characterized by renal and kidney cysts and end-stage renal disease.

41 genes

Invitae Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel

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The Invitae Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel analyzes genes that are associated with abnormalities of the kidneys and structures of the urinary tract including bladder, ureters and urethra. CAKUT is a congenital disorder with variable severity and may go undetected until later in life. These genes were curated based on the available evidence to date to provide a broad analysis for inherited congenital anomalies of the kidney and urinary tract.

57 genes

Invitae Nephrotic Syndrome and Focal Segmental Glomerulosclerosis (FSGS) Panel

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Invitae Nephrotic Syndrome and FSGS Panel analyzes genes that are associated with progressive renal disorders such as Alport syndrome, focal segmental glomerulosclerosis (FSGS), and nephrotic syndrome. Nephrotic syndrome and FSGS are a genetically heterogeneous spectrum of hereditary renal conditions. These genes were selected based on the available evidence to date to provide a broad analysis for inherited nephrotic syndrome and FSGS.

6 genes

Invitae Alport Syndrome Panel

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Genetic testing for genes associated with Alport syndrome which is generally characterized by renal disease and deafness with possible ocular findings including anterior lenticonus and cataract.

44 genes

Invitae Cystic Kidney Disease Panel

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Genetic testing for genes associated with cystic kidney disease including but not limited to Alport syndrome, focal segmental glomerulosclerosis (FSGS), and nephrotic syndrome. Cystic kidney conditions are genetically heterogeneous disorders representing a spectrum of hereditary renal conditions. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication.

40 genes

Invitae Nephrolithiasis Panel

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The Invitae Nephrolithiasis Panel analyzes genes that are associated with nephrolithiasis.

18 genes

Invitae Progressive Renal Disease Panel

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The Invitae Progressive Renal Disease Panel analyzes genes that are associated with progressive renal disorders such as Alport syndrome, focal segmental glomerulosclerosis (FSGS) and nephrotic syndrome. Nephrotic syndrome and FSGS are genetically heterogeneous disorders representing a spectrum of hereditary renal conditions. The genetic heterogeneity associated with these renal conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication.

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

  • Clinical Area: Non-malignant Hematology
  • Clinical Area: Pediatric and Rare Disease
  • Clinical Area: Nephrolithiasis
  • Clinical Area: Progressive Renal Disease

Gene
A
ACE

The ACE gene is associated with autosomal recessive renal tubular dysgenesis (MedGen UID: 82738).

ACTC1

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).

ACTN4

The ACTN4 gene is associated with autosomal dominant focal segmental glomerulosclerosis (FSGS) (MedGen UID: 1636833).

ACVR2B

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

ADAMTS13

The ADAMTS13 gene is associated with Upshaw-Schulman syndrome, also known as autosomal recessive congenital thrombotic thrombocytopenic purpura (TPP) due to ADAMTS13 deficiency (MedGen UID: 224783).

ADAMTS9

The ADAMTS9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal recessive ciliopathy (PMID: 30609407).

ADCY10

The ADCY10 gene is associated with autosomal dominant familial idiopathic hypercalciuria (MedGen UID: 137974) and autosomal recessive male infertility (PMID: 31119281).

AGPS

The AGPS gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata type 3 (RCDP) (MedGen UID: 374012).

AGT

The AGT gene is associated with autosomal recessive renal tubular dysgenesis (RTD) (MedGen UID: 82738).

AGTR1

The AGTR1 gene is associated with autosomal recessive renal tubular dysgenesis (RTD) (MedGen UID: 82738).

AGXT

The AGXT gene is associated with autosomal recessive primary hyperoxaluria, type 1 (PH1) (MedGen UID: 75658).

AHI1

The AHI1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 798322) and autosomal recessive nonsyndromic retinitis pigmentosa (PMID: 28442542, 29186038).

AK7

The AK7 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive male infertility (MedGen UID: 1634748). Other AK7-related conditions have been reported (PMID: 22801010).

ALG8

The ALG8 gene is associated with autosomal recessive ALG8-congenital disorder of glycosylation (CDG-Ih) (MedGen UID 374956). Additionally, the ALG8 gene has preliminary evidence supporting a correlation with polycystic liver disease (PMID: 28375157).

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).

AMN

The AMN gene is associated with autosomal recessive Imerslund-Gräsbeck syndrome (MedGen UID: 224934).

ANKS6

The ANKS6 gene is associated with autosomal recessive nephronophthisis (NPHP16) (MedGen UID: 815650).

ANLN

The ANLN gene is associated with autosomal dominant focal segmental glomerulosclerosis (FSGS) (MedGen UID: 863430). Additionally, the ANLN gene has preliminary evidence supporting a correlation with autosomal dominant branchio‐otic syndrome (PMID: 30548429).

APOL1

Specific variants in APOL1, commonly referred to as the “G1” and “G2” alleles, are associated with an increased risk for focal segmental glomerulosclerosis (FSGS) and other forms of kidney disease (PMID: 20647424, 20635188). Other variants in this gene do not have an established association with disease.

APRT

The ARPT gene is associated with autosomal recessive adenine phosphoribosyltransferase (APRT) deficiency (MedGen UID: 82772).

ARHGAP24

The ARHGAP24 gene is associated with autosomal dominant nephrotic syndrome (MedGen UID: 890751).

ARHGDIA

The ARHGDIA gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 815283).

ARL13B

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

ARL3

The ARL3 gene is associated with with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 1648404) and autosomal recessive Joubert syndrome (MedGen UID: 1648453).

ARL6

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

ARMC4

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

ARMC9

The ARMC9 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 945537).

ASCC1

The ASCC1 gene is associated with autosomal recessive spinal muscular atrophy with congenital bone fractures 2 (SMABF2) (MedGen UID: 907910).

ATP6V0A4

The ATP6V0A4 gene is associated with autosomal recessive distal renal tubular acidosis (dRTA) (MedGen UID: 351142).

ATP6V1B1

The ATP6V1B1 gene is associated with autosomal recessive distal renal tubular acidosis (dRTA) with progressive nerve deafness (MedGen UID: 98336).

ATP7B

The ATP7B gene is associated with autosomal recessive Wilson disease (MedGen UID: 42426).

B
B9D1

The B9D1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 934673).

B9D2

The B9D2 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).

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).

BCOR

The BCOR gene is associated with spectrum including X-linked dominant oculofaciocardiodental (OFCD) syndrome (MedGen UID: 337547) and an X-linked recessive severe microphthalmia syndrome (PubMed: 29974297).

BICC1

The BICC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with cystic renal dysplasia (PMID: 21922595, 28566479).

BNC2

The BNC2 gene is associated with autosomal dominant congenital lower urinary tract obstruction (LUTO) (MedGen UID: 945408).

BRAF

The BRAF gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 462320), Noonan syndrome with Multiple Lentigines (NSML) (MedGen UID: 462321) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 852267).

C
C11orf70

The CFAP300 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 1648465).

C2CD3

The C2CD3 gene is associated with autosomal recessive oral-facial-digital syndrome type 14 (OFD14) (MedGen UID: 799885) and Joubert syndrome (PMID: 26477546, 2692869).

C3

The C3 gene is associated with autosomal recessive C3 deficiency (MedGen UID: 462421) and autosomal dominant atypical hemolytic uremic syndrome 5 (aHUS5) (MedGen UID: 442875).

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).

CA2

The CA2 gene is associated with autosomal recessive carbonic anhydrase 2 (CA2) deficiency (MedGen UID: 91042).

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.

CBL

The CBL gene is associated with autosomal dominant Noonan-like syndrome with or without juvenile myelomonocytic leukemia (MedGen UID: 462153). Additionally, the CBL gene has preliminary evidence supporting a correlation with autosomal dominant cerebral arteriopathy (PMID: 32637631).

CC2D2A

The CC2D2A gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322) and autosomal recessive retinal dystrophy (PMID: 30267408).

CCDC103

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

CCDC114

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

CCDC151

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

CCDC39

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

CCDC40

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

CCDC65

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

CCNO

The CCNO gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 862971).

CCNQ

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

CD151

The CD151 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephropathy with pretibial epidermolysis bullosa and deafness (MedGen UID: 323004).

CD2AP

The CD2AP gene is associated with autosomal dominant and recessive focal segmental glomerulosclerosis (FSGS) (MedGen UID: 335850).

CD46

The CD46 gene is associated with autosomal dominant atypical hemolytic uremic syndrome (aHUS) (MedGen UID: 414167).

CD55

The CD55 gene is associated with autosomal recessive complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy syndrome (MedGen UID: 1622548).

CD59

The CD59 gene is associated with autosomal recessive CD59-mediated hemolytic anemia, with or without immune-mediated polyneuropathy (HACD59) (MedGen UID: 393582).

CELSR2

The CELSR2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive syndromic autism spectrum disorder (PMID: 28720891), autosomal recessive oral-facial-digital syndrome (PMID: 27894351), autosomal recessive Joubert syndrome (PMID: 28052552) and autosomal dominant schizophrenia (PMID: 23911319).

CENPF

The CENPF gene is associated with autosomal recessive Stromme syndrome (MedGen UID: 340938).

CEP104

The CEP104 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 852392).

CEP120

The CEP120 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 1618082) and short-rib thoracic dysplasia with or without polydactyly (SRTD) (MedGen UID: 898712).

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).

CEP41

The CEP41 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 482527).

CEP55

The CEP55 gene is associated with an autosomal recessive Joubert syndrome and related disorders (JSRD), also known as MARCH (MedGen UID: 343465).

CEP83

The CEP83 gene is associated with autosomal recessive nephronophthisis (NPHP) (MedGen UID: 786419).

CEP89

The CEP89 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency (PMID: 24038936) and polycystic kidney disease (PMID: 29527510).

CFAP298

The CFAP298 gene (formerly known as C21orf59) is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 816014).

CFAP410

The CFAP410 gene (formerly known as C21orf2) is associated with autosomal recessive retinal dystrophy (MedGen UID: 1381980) and axial spondylometaphyseal dysplasia (SMDAX) (MedGen UID: 356065).

CFB

The CFB gene is associated with autosomal dominant atypical hemolytic uremic syndrome (MedGen UID: 416691). In addition, there is preliminary evidence supporting a correlation with autosomal recessive complement factor B deficiency (CFBD) (PMID: 24152280; MedGen UID: 816280).

CFH

The CFH gene is associated with autosomal dominant atypical hemolytic uremic syndrome (MedGen UID: 412743) and autosomal recessive complement factor H deficiency (MedGen UID: 96024). Additionally, the CFH gene has preliminary evidence supporting a correlation with basal laminar drusen (MedGen UID: 152676) and age-related macular degeneration (MedGen UID: 339914).

CFI

The CFI gene is associated with autosomal recessive complement factor I deficiency (PMID: 31231365) and autosomal dominant atypical hemolytic uremic syndrome (aHUS) (MedGen UID: 414542). Additionally, the CFI gene has preliminary evidence supporting a correlation with autosomal dominant age-related macular degeneration susceptibility (MedGen UID: 615439).

CFTR

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

CHD7

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

CHUK

The CHUK gene is associated with autosomal recessive cocoon syndrome (MedGen UID: 462241).

CLCN5

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

CLCNKB

The CLCNKB gene is associated with autosomal recessive Bartter syndrome type 3 (BSIII) (MedGen UID: 335399) and Gitelman syndrome (PMID: 26920127, 24830959).

CLDN16

The CLDN16 gene is associated with autosomal recessive familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) (MedGen UID: 120640).

CLDN19

The CLDN19 gene is associated with autosomal recessive familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) (MedGen UID: 344503).

CLUAP1

The CLUAP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Leber congenital amaurosis (LCA) (PMID: 26820066) and an autosomal recessive multiple congenital malformation syndrome (PMID: 28679688).

COL11A1

The COL11A1 gene is associated with autosomal dominant Stickler syndrome (MedGen UID: 347615), Marshall syndrome (MRSHS) (MedGen UID: 82694), which is considered to be a phenotypic variant of Stickler syndrome by some experts (PMID: 10486316, 17236192), and non-syndromic deafness (MedGen UID: 1676950). COL11A1 is also associated with autosomal recessive fibrochondrogenesis (MedGen UID: 82700) as well as autosomal recessive forms of Stickler and Marshall syndromes (PMID: 22499343, 23922384).

COL11A2

The COL11A2 gene is associated with a spectrum of related autosomal recessive conditions including nonsyndromic deafness (MedGen UID: 400602), otospondylomegaepiphyseal dysplasia (OSMED) (MedGen UID: 1617409), and fibrochondrogenesis (MedGen UID: 479768). COL11A2 is also associated with a spectrum of related autosomal dominant conditions including Stickler syndrome III (MedGen UID: 349293 and 120521), OSMED (also known as Weissenbacher-Zweymüller syndrome; MedGen UID: 341234) and nonsyndromic deafness (MedGen UID: 400917).

COL1A1

The COL1A1 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246), Ehlers-Danlos syndrome (MedGen UID: 1645042, 977637), and Caffey disease (PMID: 24389367). Additionally, the COL1A1 gene has preliminary evidence supporting a correlation with autosomal recessive Ehlers-Danlos syndrome (PMID: 27023906).

COL1A2

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) and autosomal recessive osteogenesis imperfecta (PMID: 29572562).

COL2A1

The COL2A1 gene is associated with a spectrum of autosomal dominant related conditions including achondrogenesis type II (MedGen UID: 66315), avascular necrosis of the femoral head (MedGen UID: 1639295), Legg-Calve-Perthes disease (MedGen UID: 6035), multiple forms of skeletal dysplasia (MedGen UID: 324580, 75559, 331974, 387979, 163223, 147134, 412530, 905084) and Stickler syndrome, type I (MedGen UID: 810955); and autosomal recessive spondyloepiphyseal dysplasia congenita (PMID: 25060605, 26358419, 26626311). Additionally, the COL2A1 gene has preliminary evidence supporting a correlation with other forms of autosomal dominant skeletal dysplasia (MedGen UID: 377049, 140925; PMID: 12205109).

COL4A1

The COL4A1 gene is associated with a spectrum of overlapping autosomal dominant conditions including brain small vessel disease with or without ocular anomalies (BSVD1) (MedGen UID: 1647320), which is sometimes referred to as porencephaly, hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) (MedGen UID: 382033), tortuosity of retinal arteries (RATOR) (MedGen UID: 356748), and pontine microangiopathy and leukoencephalopathy (PADMAL) (MedGen UID: 1684781).

COL4A3

The COL4A3 gene is associated with autosomal recessive and autosomal dominant Alport syndrome (MedGen UID: 1648334, 1648326).

COL4A4

The COL4A4 gene is associated with autosomal recessive and autosomal dominant Alport syndrome (MedGen UID: 1648334, PMID: 26809805).

COL4A5

The COL4A5 gene is associated with X-linked Alport syndrome (MedGen UID: 1648433).

COL4A6

The COL4A6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked deafness (PMID: 23714752) and Alport syndrome-diffuse leiomyomatosis (PMID: 28275241).

COQ2

The COQ2 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 764868).

COQ6

The COQ6 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766263).

COQ8B

The COQ8B gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 816295).

CPLANE1

The CPLANE1 gene (formerly known as C5orf42) is associated with autosomal recessive Joubert syndrome (MedGen UID: 766178) and orofaciodigital syndrome, type VI (OFD6) (MedGen UID: 411200).

CRB2

The CRB2 gene is associated with autosomal recessive focal segmental glomerulosclerosis (MedGen UID: 863992).

CREB3L1

The CREB3L1 gene is associated with autosomal recessive osteogenesis imperfecta (OI) (MedGen UID: 864047). Additionally, the CREB3L1 gene has preliminary evidence supporting a correlation with autosomal dominant OI (PMID: 28817112).

CRELD1

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).

CRKL

The CRKL gene currently has no well-established disease association; however, this gene occurs within the region associated with 22q11.2 deletion and duplication syndromes (PMID: 28121514, 27629806, 30628148, 30614210) and there is preliminary evidence supporting a correlation with CAKUT (PMID: 28121514).

CRTAP

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

CSPP1

The CSPP1 gene is associated with with autosomal recessive Joubert syndrome (MedGen UID: 934673) and short-rib thoracic dystrophy (SRTD) (PMID: 24360808).

CTU2

The CTU2 gene is associated with autosomal recessive DREAM-PL syndrome (PMID: 31301155).

CUBN

The CUBN gene is associated with autosomal recessive megaloblastic anemia 1 (MGA1, also known as Imerslund-Gräsbeck syndrome) (MedGen UID: 224934).

CYP24A1

The CYP24A1 gene is associated with autosomal recessive infantile hypercalcemia (MedGen UID: 120608).

D
DCDC2

The DCDC2 gene is associated with autosomal recessive nephronophthisis 19 (NPHP19) (MedGen UID: 863979) and neonatal sclerosing cholangitis (NSC) (MedGen: 1393230). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive deafness (PMID: 25601850).

DCHS1

The DCHS1 gene is associated with autosomal dominant mitral valve prolapse (MedGen UID: 335856) and autosomal recessive Van Maldergem syndrome (MedGen UID: 1644627).

DDX59

The DDX59 gene is associated with autosomal recessive oral-facial-digital syndrome (OFD) (MedGen UID: 358131).

DGKE

The DGKE gene is associated with autosomal recessive atypical hemolytic uremic syndrome 7 (AHUS7) and nephrotic syndrome, type 7 (NPHS7) (MedGen UID: 767244).

DHCR7

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

DHTKD1

The DHTKD1 gene is associated with autosomal recessive 2-aminoadipic 2-oxoadipic aciduria (AMOXAD) (MedGen UID: 395350), a biochemical phenotype which may or may not result in a clinical condition. The DHTKD1 gene is also associated with autosomal dominant Charcot-Marie-Tooth disease type 2Q (CMT2Q) (MedGen UID: 767280). Additionally, the DHTKD1 gene has preliminary evidence supporting a correlation with autosomal recessive steroid resistant nephrotic syndrome (PMID: 29127259).

DICER1

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

DLL1

The DLL1 gene is associated with an autosomal dominant neurodevelopmental disorder with brain malformations (MedGen UID: 946090). Additionally, the DLL1 gene has preliminary evidence supporting a correlation with autosomal recessive spondylocostal dysostosis (PMID: 31275352, 26801181).

DLL3

The DLL3 gene is associated with autosomal recessive spondylocostal dysostosis (MedGen UID: 834049).

DMRT2

The DMRT2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spondylocostal dysostosis (PMID: 29681102)

DNAAF1

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

DNAAF2

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

DNAAF3

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

DNAAF4

The DNAAF4 gene (formerly known as DYX1C1) is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 815971).

DNAAF5

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

DNAH1

The DNAH1 gene is associated with autosomal recessive multiple morphological abnormalities of the sperm flagella (MMAF) (PMID: 27573432, 27798045) and autosomal recessive primary ciliary dyskinesia (PMID: 25927852).

DNAH11

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

DNAH5

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

DNAH8

The DNAH8 gene is associated with autosomal recessive primary ciliary dyskinesia (PMID: 24307375) and nonsyndromic multiple morphological abnormalities of the flagella (MedGen UID: 976114).

DNAH9

The DNAH9 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 1648365).

DNAI1

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

DNAI2

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

DNAJB11

The DNAJB11 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant polycystic kidney disease (PMID: 29706351).

DNAJB13

THE DNAJB13 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 934689).

DNAL1

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

DRC1

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

DSTYK

The DSTYK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 23 (SPG23) (MedGen UID: 167094) and autosomal dominant congenital anomalies of kidney and urinary tract (MedGen UID: 322763).

DYNC2H1

The DYNC2H1 gene is associated with autosomal recessive short-rib polydactyly syndrome, also known as asphyxiating thoracic dystrophy (MedGen UID: 462535), and nonsyndromic retinitis pigmentosa (PMID: 32753734).

DYNC2LI1

The DYNC2LI1 gene is associated with autosomal recessive short-rib thoracic dysplasia with or without polydactyly (MedGen UID: 934691).

DZIP1L

The DZIP1L gene is associated with autosomal recessive polycystic kidney disease (PKD) (MedGen UID: 1624679).

E
EBP

The EBP gene is associated with X-linked dominant chondrodysplasia punctata type II (CDPX2) (MedGen UID: 79381), and X-linked recessive male EBP disorder with neurological defects (MEND) (MedGen UID: 905986).

ELN

The ELN gene is associated with autosomal dominant supravalvular 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).

EMP2

The EMP2 gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 862944).

EVC

The EVC gene is associated with autosomal recessive Ellis-van Creveld syndrome (EvC) (MedGen UID: 8584). Additionally, the EVC gene has preliminary evidence supporting a correlation with autosomal dominant Weyers acrodental dysostosis (PMID: 7628126, 30076350).

EVC2

The EVC2 gene is associated with autosomal recessive Ellis-van Creveld syndrome (EvC) (MedGen UID: 8584), and autosomal dominant Weyers acrodental dysostosis (WAD) (MedGen UID: 141594).

EXOC3L2

The EXOC3L2 gene is associated with an autosomal recessive ciliopathy (PMID: 30327448, 27894351).

EXOC8

The EXOC8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Joubert syndrome (PMID: 22700954).

EYA1

The EYA1 gene is associated with autosomal dominant forms of branchiootorenal spectrum disorders (MedGen UID: 351307, 82693).

F
FAM111A

The FAM111A gene is associated with autosomal dominant Gracile bone dysplasia (MedGen UID: 356331) and Kenny-Caffey syndrome (KCS) (MedGen UID: 1373312).

FAM186B

The FAM186B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephronophthisis (PMID: 26489029).

FAM20A

The FAM20A gene is associated with autosomal recessive enamel-renal syndrome (MedGen UID: 419162).

FAT4

The FAT4 gene is associated with autosomal recessive Hennekam lymphangiectasia-lymphedema syndrome (MedGen UID: 863376) and Van Maldergem syndrome (MedGen UID: 816205).

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).

FGF20

The FGF20 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive renal hypodysplasia/aplasia (MedGen UID: 816689).

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).

FGFR2

The FGFR2 gene is associated with autosomal dominant forms of craniosynostosis including Apert syndrome (MedGen UID: 7858), Crouzon syndrome (MedGen UID: 914990), Jackson-Weiss syndrome (MedGen UID: 208653), Pfeiffer syndrome (MedGen UID: 350148), and Beare-Stevenson syndrome (MedGen UID: 377668); bent bone dysplasia (MedGen UID: 482877); and Lacrimo-Auriculo-Dento-Digital Syndrome (LADD) (MedGen UID: 78545). Additionally, the FGFR2 gene has preliminary evidence supporting a correlation with autosomal recessive ectrodactyly and acinar dysplasia (PMID: 27323706).

FGFR3

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).

FN1

The FN1 gene is associated with autosomal dominant glomerulopathy with fibronectin deposits (GFND) (MedGen UID: 356149) and spondylometaphyseal dysplasia – corner fracture type (MedGen UID: 98146).

FOXC1

The FOXC1 gene is associated with autosomal dominant anterior segment dysgenesis (ASD) (MedGen UID: 355748), Axenfeld-Rieger syndrome (ARS) (Medgen UID: 394534), primary congenital glaucoma (PCG) (PMID: 30653210), and congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 32475988).

FOXH1

The FOXH1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214) and autosomal dominant congenital heart disease, including tetralogy of Fallot and heterotaxy (PMID: 18538293, 32003456).

FOXI1

The FOXI1 gene is associated with autosomal recessive distal renal tubular acidosis (dRTA) (PMID: 29242249).

FRAS1

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

FREM1

The FREM1 gene is associated with autosomal recessive Manitoba oculo-tricho-anal (MOTA) syndrome (MedGen UID: 383680) and bifid nose with or without anorectal and renal anomalies (BNAR) syndrome (MedGen UID: 413305). Additionally, the FREM1 gene has preliminary evidence supporting a correlation with autosomal dominant trigonocephaly (PMID: 21931569) and autosomal recessive hydrocephalus and short-limbed dwarfism (PMID: 28622873).

FREM2

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

G
GANAB

The GANAB gene is associated with autosomal dominant polycystic kidney disease (MedGen UID: 854672). Additionally, the GANAB gene has preliminary evidence supporting a correlation with congenital heart defect and neurodevelopmental disorder (PMID: 26785492).

GAS8

The GAS8 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 852235).

GATA3

The GATA3 gene is associated with autosomal dominant hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome (Medgen UID: 374443).

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).

GDF1

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

GJA1

The GJA1 gene is associated with autosomal dominant and recessive oculodentodigital dysplasia (ODDD) (MedGen UID: 167236) and autosomal dominant erythrokeratodermia variabilis et progressiva (EKVP) (MedGen UID: 1380593). Additionally, the GJA1 gene has preliminary evidence supporting a correlation with autosomal recessive craniometaphyseal dysplasia (MedGen UID: 419753), autosomal dominant syndactyly type 3 (MedGen UID: 396117), and autosomal dominant structural heart defects (PMID: 7715640).

GLI3

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). Additionally, the GLI3 gene has preliminary evidence supporting a correlation with autosomal recessive Pallister-Hall-like syndrome (PMID: 32112393).

GLIS2

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

GNPAT

The GNPAT gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata type 2 (RCDP2) (MedGen UID: 341734).

GPC3

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

GPHN

The GPHN gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 340761) and autosomal dominant GPHN-related spectrum disorder including seizures, autism and intellectual disability (PMID: 23393157). Additionally, the GPHN gene has preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (EIEE) (PMID: 26613940).

GPX4

The GPX4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spondylometaphyseal dysplasia, Sedaghatian type (MedGen UID: 340816).

GREB1L

The GREB1L gene is associated with autosomal dominant renal hypodysplasia/aplasia (MedGen UID: 1626497). Additionally, the GREB1L gene has preliminary evidence supporting a correlation with autosomal dominant inner ear malformations and deafness (PMID: 29955957, 32585897).

GRHPR

The GRHPR gene is associated with autosomal recessive primary hyperoxaluria, type 2 (PH2) (MedGen UID: 120616).

H
HAND1

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).

HES7

The HES7 gene is associated with autosomal recessive spondylocostal dysostosis (MedGen UID: 462292).

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).

HOGA1

The HOGA1 gene is associated with autosomal recessive primary hyperoxaluria type 3 (PH3) (MedGen UID: 462228).

HOXA13

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

HPRT1

The HPRT1 gene is associated with X-linked HPRT deficiency which includes a spectrum of Lesch Nyhan syndrome (MedGen UID: 9721) to isolated hyperuricemia with gout (MedGen UID: 82770).

HPSE2

The HPSE2 gene is associated with autosomal recessive Ochoa syndrome, also known as urofacial syndrome (MedGen UID: 98015).

HRAS

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

HSPG2

The HSPG2 gene is associated with autosomal recessive Schwartz-Jampel syndrome type 1 (SJS1) (MedGen UID: 19892) and dyssegmental dysplasia, Silverman-Handmaker type (DDSH) (MedGen UID: 98144).

HYLS1

The HYLS1 gene is associated with autosomal recessive hydrolethalus syndrome (MedGen UID: 343455). Additionally, the HYLS1 gene has preliminary evidence supporting a correlation with autosomal recessive Joubert syndrome (PMID: 26830932).

I
ICK

The ICK gene (also known as CILK1) is associated with autosomal recessive endocrine-cerebro-osteodysplasia (MedGen UID: 390740).

IFT122

The IFT122 gene is associated with autosomal recessive cranioectodermal dysplasia 1 (CED1) (MedGen UID: 96586).

IFT140

The IFT140 gene is associated with autosomal recessive Mainzer-Saldino syndrome (MedGen UID: 341455), and retinitis pigmentosa (MedGen UID: 1619674).

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).

IFT43

The IFT43 gene is associated with autosomal recessive cranioectodermal dysplasia (MedGen UID: 481437). Additionally, the IFT43 gene has preliminary evidence supporting a correlation with autosomal recessive retinal degeneration (PMID: 28973684).

IFT52

The IFT52 gene is associated with autosomal recessive autosomal recessive short-rib thoracic dysplasia with or without polydactyly (PMID: 26880018, 27466190).

IFT57

The IFT57 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive orofaciodigital syndrome (MedGen UID: 1633851).

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).

IFT80

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

IFT81

The IFT81 gene is associated with a spectrum of autosomal recessive ciliopathies including short-rib thoracic dystrophy (SRTD) (MedGen UID: 1635837) and nephronophthisis with polydactyly (PMID: 26275418). Additionally, the IFT81 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (RP) (PMID: 28460050).

IMPAD1

The IMPAD1 gene is associated with autosomal recessive chondrodysplasia with joint dislocations, GPAPP type (MedGen UID: 481387).

INF2

The INF2 gene is associated with autosomal dominant intermediate Charcot-Marie-Tooth disease type E (CMT-DIE) (MedGen UID: 482475) and focal segmental glomerulosclerosis (FSGS5) (MedGen UID: 413315).

INPP5E

The INPP5E gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 468502) and retinitis pigmentosa (PMID: 29555955, 28559085, 29186038).

INPPL1

The INPPL1 gene is associated with autosomal recessive opsismodysplasia (OPSMD) (MedGen UID: 140927).

INTU

The INTU gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive oral-facial-digital syndrome (PMID: 29451301) and a spectrum of conditions affecting the skeletal system (PMID: 27158779, 29068549).

INVS

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

IQCB1

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

ITGA3

The ITGA3 gene is associated with autosomal recessive interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa (ILNEB) (MedGen UID: 766550).

ITGA8

The ITGA8 gene is associated with autosomal recessive renal hypodysplasia/aplasia (MedGen UID: 301437).

ITGB4

The ITGB4 gene is associated with autosomal recessive epidermolysis bullosa with or without pyloric atresia (MedGen UID: 82798, 384018). Additionally, the ITGB4 gene has preliminary evidence supporting a correlation with steroid resistant nephrotic syndrome (PMID: 25349199, 30712057) and autosomal dominant epidermolysis bullosa (PMID: 26817667).

J
JAG1

The JAG1 gene is associated with autosomal dominant Alagille syndrome (MedGen UID: 365434), tetralogy of Fallot (MedGen UID: 21498), and Charcot-Marie-Tooth disease type 2 (CMT2) (PMID: 32065591). Additionally, the JAG1 gene has preliminary evidence supporting a correlation with autosomal dominant familial exudative vitreoretinopathy (PMID: 31273345).

K
KANK1

The KANK1 gene gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with spastic quadriplegic cerebral palsy (MedGen UID: 442880) and intellectual disability (PMID: 26350204).

KANK2

The KANK2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephrotic syndrome (MedGen UID: 1622427) and autosomal recessive keratoderma with woolly hair (MedGen UID: 863639).

KANK4

The KANK4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephrotic syndrome (PMID: 25961457).

KCNJ1

The KCNJ1 gene is associated with autosomal recessive Bartter syndrome type 2 (BSII) (MedGen UID: 343428).

KIAA0556

The KIAA0556 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 900415).

KIAA0586

The KIAA0586 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 900119) and short-rib thoracic dysplasia (SRTD) (MedGen UID: 901479).

KIAA0753

The KIAA0753 gene is associated with a spectrum of autosomal recessive skeletal ciliopathies (PMID: 29138412).

KIF14

The KIF14 gene is associated with autosomal recessive ciliopathy-like syndrome (PMID: 30388224) and autosomal recessive microcephaly (MedGen UID: 1641618).

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).

KRAS

The KRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 349931), cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501102) and Costello syndrome (PMID: 17056636, 17468812).

L
LAGE3

The LAGE3 gene is associated with X-linked recessive Galloway-Mowat syndrome (MedGen UID: 1625619).

LAMA5

The LAMA5 gene is associated with autosomal recessive nephrotic syndrome (PMID: 29534211). Additionally, the LAMA5 gene has preliminary evidence supporting a correlation with autosomal dominant LAMA5-related multisystemic syndrome (MedGen UID: 941785).

LAMB2

The LAMB2 gene is associated with autosomal recessive nephrotic syndrome, type 5 (NPHS5) with or without ocular abnormalities (MedGen UID: 481743), and Pierson syndrome (MedGen UID: 373199). Additionally, the LAMB2 gene has preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome (PMID: 19251977).

LBR

The LBR gene is associated with autosomal dominant Pelger-Huet anomaly (MedGen UID: 10617), and autosomal recessive Greenberg dysplasia (MedGen UID: 418969) and Pelger-Huet anomaly with mild skeletal anomalies (MedGen UID: 1648288). Additionally, the LBR gene has preliminary evidence supporting a correlation with autosomal dominant Reynolds syndrome (MedGen UID: 450547; PMID: 20522425).

LEFTY2

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

LFNG

The LFNG gene is associated with autosomal recessive spondylocostal dysostosis (MedGen UID: 377871).

LMX1B

The LMX1B gene is associated with autosomal dominant nail-patella syndrome (NPS) (MedGen UID: 10257) and focal segmental glomerulosclerosis (FSGS)(PMID: 23687361, 26560070).

LRP4

The LRP4 gene is associated with autosomal recessive Cenani-Lenz syndactyly syndrome (CLSS) (MedGen UID: 395226) and sclerosteosis 2 (SOST2) (MedGen UID: 482032). Additionally, the LRP4 gene has preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome 17 (CMS17) (MedGen UID: 895078).

LRP5

The LRP5 gene is associated with autosomal dominant osteopetrosis (MedGen UID: 335932), autosomal dominant polycystic liver disease (MedGen UID: 165781), autosomal recessive osteoporosis with pseudoglioma (OPPG) (MedGen UID: 98480), and autosomal dominant and recessive exudative vitreoretinopathy (FEVR) (MedGen UID: 356171).

LRRC56

The LRRC56 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 1648363).

LRRC6

The LRRC6 gene is associated with autosomal recessive primary ciliary dyskinesia 19 (PCD19) (MedGen UID: 762332).

LRRCC1

The LRRCC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Joubert syndrome (PMID: 27894351).

LZTFL1

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

M
MAGI2

The MAGI2 gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 1620414).

MAP2K1

The MAP2K1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 18073) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 815336).

MAP2K2

The MAP2K2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 18073) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 815337).

MAPKBP1

The MAPKBP1 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 934607).

MBTPS2

The MBTPS2 gene is associated with X-linked ichthyosis follicularis with atrichia and photophobia (MedGen UID: 327007) and osteogenesis imperfecta (MedGen UID: 1648353).

MCIDAS

The MCIDAS gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 946079).

MED13L

The MED13L gene is associated with autosomal dominant intellectual disabilities and facial dysmorphism with or without cardiac defects (MedGen UID: 900924). Additionally, the MED13L gene has preliminary evidence supporting a correlation with heterotaxy (PMID: 27959697, 14638541).

MESP2

The MESP2 gene is associated with autosomal recessive spondylocostal dysostosis (MedGen UID: 332481).

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).

MMACHC

The MMACHC gene is associated with autosomal recessive methylmalonic aciduria with homocystinuria due to cobalamin C (cblC) deficiency (MedGen UID: 341256).

MOCOS

The MOCOS gene is associated with autosomal recessive xanthinuria (PMID: 17368066, 11302742, 25967871).

MOCS1

The MOCS1 gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 381530).

MOCS2

The MOCS2 gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 340760). Of note, the MOCS2 gene encodes two different proteins, MOCS2A and MOCS2B. Each protein is translated from alternate transcripts that have different open reading frames.

MRE11

The MRE11 gene, formerly known as MRE11A, is associated with autosomal recessive ataxia-telangiectasia-like disorder (ATLD) (MedGen UID: 861227). There is preliminary evidence suggesting phenotypic overlap between ATLD and autosomal recessive Joubert syndrome (PMID: 22863007). Additionally, MRE11 has preliminary evidence supporting a correlation with autosomal dominant predisposition to breast and gynecologic cancer (PMID: 14684699, 24894818, 24549055, 25452441). The data, however, are preliminary and insufficient to make a determination regarding these relationships.

MYH6

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).

MYH9

The MYH9 gene is associated with autosomal dominant MYH9-related disorders (MYH9RD) (MedGen UID: 441714) and nonsyndromic deafness (MedGen UID: 350942).

MYO1E

The MYO1E gene is associated with autosomal recessive focal segmental glomerulosclerosis (FSGS) (MedGen UID: 481535).

N
NEK1

The NEK1 gene is associated with autosomal recessive short rib-polydactyly syndrome type 2 (SRP2), also known as Majewski syndrome (MedGen UID: 44252). Additionally, the NEK1 gene has preliminary evidence supporting a correlation with amyotrophic lateral sclerosis (PMID: 26945885, 27455347).

NEK8

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

NF1

The NF1 gene is associated with autosomal dominant neurofibromatosis type 1 (NF1) (MedGen UID: 18013), neurofibromatosis-Noonan syndrome (NFNS) (MedGen UID: 419089) and Watson syndrome (MedGen UID: 107817).

NKX2-5

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).

NKX2-6

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

NME8

The NME8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive primary ciliary dyskinesia (MedGen UID: 370930).

NODAL

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).

NOTCH1

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

NOTCH2

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

NPHP1

The NPHP1 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 343406). Additionally, the NPHP1 gene has preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (PMID: 27486776).

NPHP3

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: 811626).

NPHP4

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

NPHS1

The NPHS1 gene is associated with autosomal recessive nephrotic syndrome type 1 (MedGen UID: 98011).

NPHS2

The NPHS2 gene is associated with autosomal recessive nephrotic syndrome type 2 (MedGen UID: 1564531).

NR2F2

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

NRAS

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

NRIP1

The NRIP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant congenital anomalies of the kidney and urinary tract (PMID: 28381549).

NSD1

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

NUP107

The NUP107 gene is associated with autosomal recessive Galloway-Mowat syndrome (MedGen UID: 1679283), autosomal recessive nephrotic syndrome (MedGen UID: 898622), and autosomal recessive ovarian dysgenesis (MedGen UID: 1648307).

NUP133

The NUP133 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Galloway-Mowat syndrome (MedGen UID: 1675829) and autosomal recessive steroid resistant nephrotic syndrome (MedGen UID: 1648464).

NUP160

The NUP160 gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 1648305).

NUP205

The NUP205 gene is associated with autosomal recessive steroid-resistant form of nephrotic syndrome with focal segmental glomerulosclerosis (FSGS) (MedGen UID: 900240). Additionally, the NUP205 gene has preliminary evidence supporting a correlation with situs inversus totalis (PMID: 31306055).

NUP85

The NUP85 gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 1648294).

NUP93

The NUP93 gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 904365).

NXF5

The NXF5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked focal segmental glomerulosclerosis (PMID: 26346198).

O
OCRL

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

OFD1

The OFD1 gene is associated with X-linked dominant oral-facial-digital syndrome type 1 (OFD1) (MedGen UID: 307142), X-linked recessive OFD1-related Joubert syndrome (MedGen UID: 440688) and X-linked recessive primary ciliary dyskinesia (PCD) (PMID: 16783569). Additionally, the OFD1 gene has preliminary evidence supporting a correlation with X-linked recessive retinitis pigmentosa (RP) (MedGen UID: 238456).

OSGEP

The OSGEP gene is associated with autosomal recessive Galloway-Mowat syndrome (MedGen UID: 1627611).

P
P3H1

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

PAM16

The PAM16 gene is associated with autosomal recessive spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type (SMDMDM) (MedGen UID: 413221).

PAX2

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).

PBX1

The PBX1 gene is associated with autosomal dominant congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delays (CAKUTHED) (MedGen UID: 1091571).

PDE6D

The PDE6D gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 816608).

PDSS2

The PDSS2 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766272).

PEX5

The PEX5 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 347830, MedGen UID: 129184) and rhizomelic chondrodysplasia punctata (RCDP) (PMID: 26220973).

PEX6

The PEX6 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766850, 766851, 903520).

PEX7

The PEX7 gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata (RCDP) (MedGen UID: 347072) and autosomal recessive Refsum disease (MedGen UID:11161).

PIAS1

The PIAS1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephronophthisis (PMID: 26489029).

PIBF1

The PIBF1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 1615779).

PIH1D3

The DNAAF6 gene (formerly known as PIH1D3) is associated with X-linked recessive primary ciliary dyskinesia (MedGen UID: 1393107).

PKD2

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

PKHD1

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

PLCE1

The PLCE1 gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 377831).

PLG

The PLG gene is associated with autosomal dominant angioedema (MedGen UID: 944089) and autosomal recessive plasminogen deficiency, type I (MedGen UID: 369859). Additionally, the PLG gene has preliminary evidence supporting a correlation with autosomal recessive dysplasminogenemia (PMID: 659588, 1986355).

PMM2

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

PODXL

The PODXL gene is associated with autosomal dominant focal segmental glomerulosclerosis (PMID: 24048372). Additionally, the PODXL gene has preliminary evidence supporting a correlation with autosomal recessive Parkinson disease (PMID: 28733970) and autosomal recessive nephrotic syndrome (PMID: 29244787).

PPIB

The PPIB gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 376720).

PREPL

The PREPL gene is associated with autosomal recessive congenital myasthenic syndrome 22 (CMS22) (MedGen UID: 1393545). Additionally, contiguous deletions of the PREPL and SLC3A1 genes are associated with autosomal recessive hypotonia-cystinuria syndrome (PMID: 16385448).

PRKCSH

The PRKCSH gene is associated with autosomal dominant polycystic liver disease (PCLD) (MedGen UID: 56388).

PTPN11

The PTPN11 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 1638960), Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 1631694), and metachondromatosis (MedGen UID: 98377).

PTPRO

The PTPRO gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 481730).

Q
R
RAF1

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: 863093).

RBM48

The RBM48 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephronophthisis (PMID: 26489029).

RCOR1

The RCOR1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Joubert syndrome (PMID: 26489029).

REN

The REN gene is associated with autosomal dominant tubulointerstitial kidney disease (ADTKD) (MedGen UID: 414347) and autosomal recessive renal tubular dysgenesis (RTD) (MedGen UID: 82738).

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).

RIPPLY2

The RIPPLY2 gene is associated with autosomal recessive spondylocostal dysostosis (MedGen UID: 899713).

RIT1

The RIT1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 815563).

ROBO2

The ROBO2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant vesicoureteral reflux (PMID: 17357069, 18235093).

RPGR

The RPGR gene is associated with X-linked primary ciliary dyskinesia (PMID: 16055928), retinitis pigmentosa (MedGen UID: 336999) and cone-rod dystrophy (MedGen UID: 336777).

RPGRIP1L

The RPGRIP1L gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).

RSPH1

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

RSPH3

The RSPH3 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) type 32 (MedGen UID: 850963).

RSPH4A

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

RSPH9

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

S
SALL1

The SALL1 gene is associated with autosomal dominant Townes-Brocks syndrome (MedGen UID: 75555). Additionally, the SALL1 gene has preliminary evidence supporting a correlation with autosomal recessive Townes-Brocks syndrome (PMID: 23069192).

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).

SEC61A1

The SEC61A1 gene is associated with autosomal dominant tubulointerstitial kidney disease (MedGen UID: 934708) and autosomal dominant plasma cell deficiency (PMID: 28782633).

SEC63

The SEC63 gene is associated with autosomal dominant polycystic liver disease (MedGen UID: 165781).

SEMA3E

The SEMA3E gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with chronic kidney disease, seizures and hypothyroidism (PMID: 30773290).

SGPL1

The SGPL1 gene is associated with autosomal recessive nephrotic syndrome type 14 (NPHS14) (MedGen UID: 1617660). Additionally, the SGPL1 gene has preliminary evidence supporting a correlation with autosomal recessive Charcot-Marie-Tooth disease (PMID: 28077491).

SHOC2

The SHOC2 gene is associated with autosomal dominant Noonan-like syndrome with loose anagen hair (MedGen UID: 1379805).

SIX1

The SIX1 gene is associated with autosomal dominant branchiootorenal spectrum disorders (MedGen UID: 333995).

SIX2

The SIX2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant frontonasal dysplasia (PMID: 26581443, 29315086), congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 18305125, 29194579), and autism spectrum disorder (PMID: 28407358).

SIX5

The SIX5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with branchio-oto-renal syndrome 2 (MedGen UID: 410081).

SLC12A1

The SLC12A1 gene is associated with autosomal recessive Bartter syndrome type 1 (MedGen UID: 355727).

SLC22A12

The SLC22A12 gene is associated with autosomal recessive renal hypouricemia (MedGen UID: 141632).

SLC26A1

The SLC26A1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive calcium oxalate urolithiasis or nephrolithiasis (MedGen UID: 318935, PMID: 27210743) or epileptic encephalopathy (PMID: 22190369).

SLC26A2

The SLC26A2 gene is associated with autosomal recessive achondrogenesis, type IB (ACG1B) (MedGen UID: 78547), atelosteogenesis type 2 (AO2) (MedGen UID: 338072), diastrophic dysplasia (DTD) (MedGen UID: 113103), and multiple epiphyseal dysplasia 4 (EDM4) (MedGen UID: 376164).

SLC2A9

The SLC2A9 gene is associated with autosomal recessive familial hypouricemia (MedGen UID: 141632). There is also preliminary evidence supporting a correlation with autosomal dominant familial hypouricemia (MedGen UID: 436974).

SLC30A7

The SLC30A7 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Joubert syndrome (PMID: 28327206).

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).

SLC35D1

The SLC35D1 gene is associated with autosomal recessive Schneckenbecken dysplasia (SBD) (MedGen UID: 98475).

SLC3A1

The SLC3A1 gene is associated with autosomal recessive cystinuria (MedGen UID: 8226). Contiguous deletions of the PREPL and SLC3A1 genes are associated with autosomal recessive hypotonia-cystinuria deletion syndrome (MedGen UID: 341133).

SLC4A1

The SLC4A1 gene is associated with autosomal dominant distal renal tubular acidosis (dRTA) (MedGen UID: 78060), autosomal recessive dRTA with haemolytic anemia (MedGen UID: 409736), autosomal dominant Southeast Asian ovalocytosis (SAO) (MedGen UID: 322256) and autosomal dominant hereditary spherocytosis (MedGen UID: 52450). Additionally, the SLC4A1 gene has preliminary evidence supporting a correlation with autosomal dominant hereditary stomatocytosis (PMID: 21255002, 19644137, 21209359).

SLC7A9

The SLC7A9 gene is associated with autosomal recessive cystinuria type B, formerly known as non-type 1 cystinuria (MedGen UID: 8226). Autosomal dominant inheritance with reduced penetrance has also been reported (PMID:1157794, 25296721).

SLC9A3R1

The SLC9A3R1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypophosphatemic nephrolithiasis and osteoporosis (PMID: 25296721, 28893421).

SLIT2

The SLIT2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 26026792), Kallmann syndrome (PMID: 30098700) and syndromic ocular anomalies (PMID: 30111362, 27513193).

SMAD6

The SMAD6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant aortic valve disease (MedGen UID: 762200), craniosynostosis (MedGen UID: 1392447), and syndromic structural heart defects (PMID: 22275001).

SMARCAL1

The SMARCAL1 gene is associated with autosomal recessive Schimke immunoosseous dysplasia (SIOD) (MedGen UID: 164078).

SOS1

The SOS1 gene is associated with autosomal dominant Noonan spectrum disorders (MedGen UID: 339908) and hereditary gingival fibromatosis (PMID: 11868160).

SOX17

The SOX17 gene is associated with autosomal dominant pulmonary arterial hypertension (PMID: 29650961, 24418654). Additionally, the SOX17 gene has preliminary evidence supporting a correlation with autosomal dominant vesicoureteral reflux (MedGen UID: 462277).

SOX9

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

SPAG1

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

SPRED1

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

SUFU

The SUFU gene is associated with autosomal dominant basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (MedGen UID: 2554) and autosomal recessive Joubert syndrome (MedGen UID: 1626697).

T
TBC1D32

The TBC1D32 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive oro-facio-digital syndrome (PMID: 24285566, 27894351).

TBX18

The TBX18 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant congenital anomalies of the kidney and urinary tract (PMID: 26235987, 30143558).

TBX5

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

TBX6

The TBX6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with spondylocostal dysostosis (PMID: 25564734, 31015262), Mayer-Rokitansky-Küster-Hauser syndrome (PMID: 25813282, 23954021), and congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 30604070).

TCTEX1D2

The TCTEX1D2 gene (also known as DYNLT2B) is associated with autosomal recessive short-rib thoracic dysplasia with or without polydactyly (MedGen UID: 1372794).

TCTN1

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

TCTN2

The TCTN2 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).

TCTN3

The TCTN3 gene is associated with autosomal recessive Joubert syndrome (Medgen UID: 766672 ) and orofacial-digital syndrome IV (OFD4) (MedGen UID: 98358).

THBD

The THBD gene is associated with autosomal dominant thrombomodulin-associated coagulopathy (TM-AC) (PMID: 25564403). Additionally, the THBD gene has preliminary evidence supporting a correlation with autosomal dominant atypical hemolytic uremic syndrome (aHUS) (MedGen UID: 414541) and autosomal dominant thrombophilia due to thrombomodulin defect (MedGen UID: 482606).

TMEM107

The TMEM107 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Joubert syndrome and related disorders (PMID: 26123494) and atypical oro-facio-digital syndrome (OFD) (PMID: 26518474).

TMEM138

The TMEM138 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 482536).

TMEM216

The TMEM216 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).

TMEM231

The TMEM231 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).

TMEM237

The TMEM237 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 482396).

TMEM38B

The TMEM38B gene is associated with autosomal recessive osteogenesis imperfecta (OI) (MedGen UID: 767342).

TMEM67

The TMEM67 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).

TP53RK

The TP53RK gene is associated with autosomal recessive Galloway-Mowat syndrome (MedGen UID: 1613511).

TPRKB

The TPRKB gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Galloway-Mowat syndrome (PMID: 28805828).

TRAF3IP1

The TRAF3IP1 gene is associated with autosomal recessive Senior-Loken syndrome (MedGen UID: 899086). Additionally, the TRAF3IP1 gene has preliminary evidence supporting a correlation with autosomal recessive short-rib thoracic dysplasia (PMID: 29068549).

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).

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).

TRIP11

The TRIP11 gene is associated with a spectrum of autosomal recessive conditions ranging from TRIP11-CDG, also known as achondrogenesis Type 1A (MedGen UID: 78546), to odontochondrodysplasia (ODCD) (MedGen UID: 411198).

TRIP4

The TRIP4 gene is associated with autosomal recessive spinal muscle atrophy with congenital bone fractures 1 (SMABF1) (MedGen UID: 896011). Additionally, the TRIP4 gene has preliminary evidence supporting a correlation with autosomal recessive congenital muscular dystrophy (MedGen UID: 934703).

TRPC6

The TRPC6 gene is associated with autosomal dominant focal segmental glomerulosclerosis (FSGS) (MedGen UID: 349053).

TRPV4

The TRPV4 gene is associated with a spectrum of overlapping autosomal dominant conditions including Charcot-Marie-Tooth disease type 2C (CMT2C) (MedGen UID: 342947), also referred to as distal hereditary motor neuropathy type 8 (HMN8) (MedGen UID: 373984) or scapuloperoneal spinal muscular atrophy (SPSMA) (MedGen UID: 148283), and multiple TRPV4-related skeletal dysplasias (MedGen UID: 975206).

TSC1

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

TSC2

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

TTC21B

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

TTC26

The TTC26 gene is associated with autosomal recessive ciliopathy (PMID: 31595528).

TTC8

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

TXNDC15

The TXNDC15 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (PMID: 30851085).

U
UMOD

The UMOD gene is associated with autosomal dominant medullary cystic kidney disease type 2 (MCKD2), and tubulointerstitial kidney disease (ADTKD) (MedGen UID: 468440). Additionally, the UMOD gene has preliminary evidence supporting an association with autosomal dominant glomerulocystic kidney disease with hyperuricemia and isosthenuria (MedGen UID: 372162).

USP9X

The USP9X gene is associated with X-linked intellectual disability (MedGen UID: 813076; PMID 26833328).

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).

VHL

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).

VIPAS39

The VIPAS39 gene is associated with autosomal recessive arthrogryposis, renal dysfunction, and cholestasis 2 (ARCS2) (MedGen UID: 462022).

VPS33B

The VPS33B gene is associated with autosomal recessive arthrogryposis, renal dysfunction, and cholestasis 1 (ARCS1) (MedGen UID: 347219).

W
WDPCP

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

WDR19

The WDR19 gene is associated with autosomal recessive asphyxiating thoracic dystrophy (ATD) (MedGen UID: 482228), nephronophthisis (NPHP) (OMIM ID: 614377) and Senior-Loken syndrome (SLS) (MedGen UID: 905171).

WDR34

The WDR34 gene is associated with autosomal recessive short-rib thoracic dysplasia (SRTD) 11 (MedGen UID: 816530). Additionally, the WDR34 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (also known as rod-cone dystrophy, or RCD) (PMID: 33124039).

WDR35

The WDR35 gene is associated with autosomal recessive short-rib thoracic dysplasia (SRTD) with or without polydactyly (MedGen UID: 481422).

WDR60

The WDR60 gene is associated with autosomal recessive short-rib thoracic dysplasia (SRTD) 8 (MedGen UID: 816021).

WDR73

The WDR73 gene is associated with autosomal recessive Galloway-Mowat syndrome (MedGen UID: 1634188).

WNT1

The WNT1 gene is associated with autosomal recessive osteogenesis imperfecta (OI) (MedGen UID: 815174) and autosomal dominant osteoporosis (PMID: 23656646, 32369212).

WNT3

The WNT3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with tetra-amelia syndrome (MedGen UID: 860705).

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).

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).

X
XDH

The XDH gene is associated with autosomal recessive xanthinuria type I (MedGen UID: 82771).

XPNPEP3

The XPNPEP3 gene is associated with autosomal recessive nephronophthisis-like nephropathy 1 (NPHPL1) (MedGen UID: 461769).

XPO5

The XPO5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive steroid resistant nephrotic syndrome (PMID: 26878725).

Y
Z
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).

ZIC3

The ZIC3 gene is associated with X-linked recessive VACTERL association with hydrocephaly (MedGen UID: 419019) and X-linked recessive heterotaxy (MedGen UID: 336609).

ZMYND10

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

ZNF423

The ZNF423 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephronophthisis (PMID: 22863007).