Nephrology

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

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

Clinical Area: Pediatric and Rare Disease

102 genes

Invitae Ciliopathies Panel

Learn More

Genetic testing for 102 genes 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.

up to 20 genes

Invitae Skeletal Ciliopathies Panel

Learn More

Genetic testing for up to 20 genes that are associated with skeletal ciliopathies including short-rib thoracic dystrophy (SRTD), asphyxiating thoracic dystrophy (ATD), Ellis-van Creveld syndrome (EVC), Weyers acrofacial dysostosis (WAD), Mainzer-Saldino syndrome (MZSDS), oral-facial digital syndrome type IV (OFD IV) and cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome.

up to 36 genes

Invitae Primary Ciliary Dyskinesia Panel

Learn More

Genetic testing for up to 36 genes associated with primary ciliary dyskinesia (PCD), a condition characterized by neonatal respiratory distress, chronic cough, recurrent pneumonia, persistent sinusitis and otitis media, and laterality defects.

16 genes

Invitae Bardet-Biedl Syndrome Panel

Learn More

Genetic testing for 16 genes associated with Bardet-Biedl syndrome (BBS), a condition characterized by truncal obesity, cognitive impairment, rod-cone dystrophy and renal abnormalities.

31 genes

Invitae Joubert and Meckel-Gruber Syndromes Panel

Learn More

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

Learn More

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

1 gene

Invitae Oral-Facial-Digital Syndrome Type 1 Test

Learn More

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

2 genes

Invitae Polycystic Kidney Disease Type 2 Panel

Learn More

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

8 genes

Invitae Senior-Loken Syndrome Panel

Learn More

Genetic testing for eight genes associated with Senior-Loken syndrome (SLSN), a condition characterized by a combination of childhood retinal and renal disease. Developmental delay may also be associated.

Clinical Area: Nephrolithiasis

35 genes

Invitae Nephrolithiasis Panel

Learn More

The Invitae Nephrolithiasis Panel analyzes genes that are associated with nephrolithiasis/kidney stone disease.

Clinical Area: Progressive Renal Disease

18 genes

Invitae Progressive Renal Disease Panel

Learn More

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: Pediatric and Rare Disease
  • Clinical Area: Nephrolithiasis
  • Clinical Area: Progressive Renal Disease

Gene
A
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
ACVR2B

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

ADCY10
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).

ALMS1

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

ALPL
ANKS6

The ANKS6 gene is associated with autosomal recessive nephronophthisis 16 (NPHP16) (MedGen UID: 815650).

ANLN
APOL1
APRT
ARL13B

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

ARL6

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

ARMC4

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

ATP6V0A4
ATP6V1B1
B
B9D1

The B9D1 gene is associated with autosomal recessive ciliopathies, including Meckel syndrome (MedGen UID: 481785) and Joubert syndrome (MedGen UID: 934673).

B9D2

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

BBS1

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

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).

BBS4

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

BBS5

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

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).

BCOR

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

BRAF

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

C
CA2
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 an increased risk for familial isolated hyperparathyroidism (FIHP) (PMID: 14985373, 21521328). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 18756473) and chronic pancreatitis (PMID: 14641934, 16497624).

CBL

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

CC2D2A

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

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 (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 786447).

CD2AP
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 (PMID: 27208211, MedGen UID: 1618082) and short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13) (PMID: 25361962; MedGen UID: 468503).

CEP164

The CEP164 gene is associated with autosomal recessive nephronophthisis 15 (NPHP15) (MedGen UID: 762112)

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).

CEP83

The CEP83 gene is associated with autosomal recessive nephronophthisis 18 (NPHP18) (MedGen UID: 786419).

CFAP298

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

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).

CLCN5
CLDN16
CLDN19
COL4A3
COL4A4
COL4A5
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
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).

CSPP1

The CSPP1 gene is associated with with autosomal recessive ciliopathies, including Meckel syndrome (MedGen UID: 481785) and Joubert syndrome (MedGen UID: 934673). A minority of individuals affected by CSPP1-related Joubert syndrome have also been reported with Jeune asphyxiating thoracic dystrophy (PMID: 24360808).

CYP24A1
D
DCDC2

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

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). Additionally, the DNAH1 gene has preliminary evidence supporting a correlation with 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 (OMIM# 603337; PMID: 24307375).

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).

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).

DYNC2H1

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

E
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).

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 (WAD) (PMID: 10700184).

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).

F
FAM20A
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).

FOXH1

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

G
GAS8

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

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).

GLIS2

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

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).

GRHPR

The GRHPR gene is associated with autosomal recessive primary hyperoxaluria, type II (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).

HNF1A

The HNF1A gene is associated with autosomal dominant maturity-onset diabetes of the young 3 (MODY3) (MedGen UID: 324942).

HOGA1

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

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).

HRAS

The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454). Other HRAS-related conditions have been described (OMIM: 163200, 218040).

I
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 short-rib thoracic dysplasia 10 with or without polydactyly (MedGen UID: 816505) and Bardet-Biedl syndrome (PMID: 26763875). Additionally, the IFT172 gene has preliminary evidence supporting a correlation with autosomal recessive non-syndromic retinitis pigmentosa (PMID: 25168386).

IFT80

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

INF2

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

INPP5E

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

INVS

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

IQCB1

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

J
JAG1

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

K
KCNJ1
KIAA0586

The KIAA0586 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 900119) and short-rib thoracic dysplasia (SRTD) 14 (MedGen UID: 901479).

KIF7

The KIF7 gene is associated with autosomal recessive acrocallosal syndrome (MedGen UID: 162915), hydrolethalus syndrome (MedGen UID: 481529) and Joubert syndrome 12 (MedGen UID: 162915).

KRAS

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

L
LEFTY2

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

LMX1B
LRRC6

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

M
MAP2K1

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

MAP2K2

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

MCIDAS

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

MED13L

The MED13L gene is associated with autosomal dominant intellectual disabilities and facial dysmorphism with or without cardiac defects (MedGen UID: 900924) and autosomal dominant transposition of great arteries, dextro-looped 1 (MedGen UID: 332422).

MKKS

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

MKS1

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

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).

MRE11

The MRE11 gene, formerly known as MRE11A, is associated with autosomal recessive ataxia-telangiectasia-like disorder (ATLD) (MedGen UID: 348929). There is preliminary evidence suggesting a phenotypic overlap between ATLD and autosomal recessive Joubert syndrome (PMID: 22863007). Additionally, the MRE11 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to breast cancer (PMID: 14684699, 24894818).

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).

MYO1E
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 is associated with autosomal recessive primary ciliary dyskinesia (PCD) (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).

NPHP1

The NPHP1 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 343406).

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: 382215).

NPHP4

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

NPHS1
NPHS2
NR2F2

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

NRAS

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

NSD1

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

O
OCRL

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

OFD1

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

P
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).

PDE6D

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

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).

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).

PTPN11

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

Q
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: 807537).

RIT1

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

RPGR

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

RPGRIP1L

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

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 (MedGen UID: 390741).

RSPH9

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

S
SDCCAG8

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

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).

SHOC2

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

SLC12A1
SLC22A12
SLC26A1
SLC2A9
SLC34A1
SLC34A3
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
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
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 type 2 (AOVD2) (MedGen UID: 762200) and syndromic structural heart defects (PMID: 22275001).

SOS1

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

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).

T
TBX5

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

TCTN1

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

TCTN2

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

TCTN3

The TCTN3 gene is associated with autosomal recessive orofacial-digital syndrome IV (OFD4) (MedGen UID: 98358). Additionally, the TCTN3 gene has preliminary evidence supporting a correlation with autosomal recessive Joubert syndrome (PMID: 25118024, 22883145).

TMEM138

The TMEM138 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Joubert syndrome (PMID: 22282472).

TMEM216

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

TMEM231

The TMEM231 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 767149) and Meckel syndrome (MedGen UID: 811346).

TMEM237

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

TMEM67

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

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). Additionally, the TRIM32 gene has preliminary evidence supporting a correlation with autosomal recessive neurodegeneration with brain iron accumulation (PMID: 26586575).

TRPC6
TTC21B

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

TTC8

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

U
UMOD
V
VDR
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).

WDR35

The WDR35 gene is associated with autosomal recessive cranioectodermal dysplasia 2 (CED2) (MedGen UID: 462224) and short-rib thoracic dysplasia (SRTD)-7 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).

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 (MedGen UID: 461769).

Y
Z
ZFPM2

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

ZIC3

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