New York Approved 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.

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

Clinical Area: Pediatric and Rare Disease

102 genes

Invitae Ciliopathies Panel

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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.

GENES TESTED:

AHI1 ANKS6 ARL13B ARL6 ARMC4 B9D1 B9D2 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 CC2D2A CCDC103 CCDC114 CCDC151 CCDC39 CCDC40 CCDC65 CCNO CEP104 CEP120 CEP164 CEP290 CEP41 CEP83 CFAP298 CPLANE1 CSPP1 DCDC2 DNAAF1 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAH1 DNAH11 DNAH5 DNAH8 DNAI1 DNAI2 DNAL1 DRC1 DYNC2H1 EVC EVC2 GAS8 GLIS2 IFT122 IFT140 IFT172 IFT80 INPP5E INVS IQCB1 KIAA0586 KIF7 LRRC6 MCIDAS MKKS MKS1 MRE11 NEK1 NEK8 NME8 NPHP1 NPHP3 NPHP4 OFD1 PDE6D PKD2 PKHD1 RPGR RPGRIP1L RSPH1 RSPH3 RSPH4A RSPH9 SDCCAG8 SPAG1 TCTN1 TCTN2 TCTN3 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TRIM32 TTC21B TTC8 WDPCP WDR19 WDR34 WDR35 WDR60 XPNPEP3 ZMYND10 ZNF423

up to 20 genes

Invitae Skeletal Ciliopathies Panel

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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.

GENES TESTED:

Primary Panel:
CEP120 CSPP1 DYNC2H1 EVC EVC2 IFT122 IFT140 IFT172 IFT80 KIAA0586 NEK1 TCTN3 TTC21B WDR19 WDR34 WDR35 WDR60

Add-on Skeletal Dysplasia Genes:
FGFR1 FGFR2 FGFR3

Individuals with FGFR1, FGFR2, and FGFR3-related skeletal dysplasia may share clinical features with the skeletal ciliopathies. Given the significant overlap and the difficulty in differentiating between these disorders, analyzing these genes may be appropriate. These genes may be included at no additional charge.

up to 36 genes

Invitae Primary Ciliary Dyskinesia Panel

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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.

GENES TESTED:

Primary Panel:
ARMC4 CCDC103 CCDC114 CCDC151 CCDC39 CCDC40 CCDC65 CCNO CFAP298 DNAAF1 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAH1 DNAH11 DNAH5 DNAH8 DNAI1 DNAI2 DNAL1 DRC1 GAS8 LRRC6 MCIDAS NME8 OFD1 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 ZMYND10

Add-on Preliminary-evidence Gene for Primary Ciliary Dyskinesia:
INVS

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

Add-on Cystic Fibrosis Gene:
CFTR

Many of the clinical features of PCD overlap with those of cystic fibrosis, including persistent sinusitis, chronic pneumonia, and bronchiectasis. If CFTR sequencing has not previously been performed, adding the CFTR test to this analysis may be appropriate. It is recommended that patients with probable PCD should be screened for pathogenic CFTR variants to rule out the possibility of cystic fibrosis. This gene can be included at no additional charge.

16 genes

Invitae Bardet-Biedl Syndrome Panel

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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.

GENES TESTED:

ARL6 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 CEP290 MKKS MKS1 SDCCAG8 TRIM32 TTC8 WDPCP

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.

GENES TESTED:

AHI1 ARL13B B9D1 B9D2 CC2D2A CEP104 CEP120 CEP290 CEP41 CPLANE1 CSPP1 INPP5E KIAA0586 KIF7 MKS1 MRE11 NPHP1 NPHP3 OFD1 PDE6D RPGRIP1L TCTN1 TCTN2 TCTN3 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TTC21B ZNF423

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.

GENES TESTED:

AHI1 ANKS6 CC2D2A CEP164 CEP290 CEP83 DCDC2 GLIS2 IFT172 INVS IQCB1 NEK8 NPHP1 NPHP3 NPHP4 OFD1 PKHD1 RPGRIP1L SDCCAG8 TCTN1 TMEM216 TMEM237 TMEM67 TTC21B WDR19 XPNPEP3 ZNF423

1 gene

Invitae Oral-Facial-Digital Syndrome Type 1 Test

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

GENES TESTED:

OFD1

2 genes

Invitae Polycystic Kidney Disease Type 2 Panel

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

GENES TESTED:

PKD2 PKHD1

8 genes

Invitae Senior-Loken Syndrome Panel

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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.

GENES TESTED:

CEP290 INVS IQCB1 NPHP1 NPHP3 NPHP4 SDCCAG8 WDR19

Clinical Area: Nephrolithiasis

35 genes

Invitae Nephrolithiasis Panel

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Genetic testing for 35 genes that are associated with nephrolithiasis, both isolated and syndromic disorders. Please see panel page for assay limitations.

GENES TESTED:

ADCY10 AGXT ALPL APRT ATP6V0A4 ATP6V1B1 CA2 CASR CLCN5 CLDN16 CLDN19 CYP24A1 FAM20A GPHN GRHPR HOGA1 HPRT1 KCNJ1 MOCOS MOCS1 OCRL PREPL SLC12A1 SLC22A12 SLC26A1 SLC2A9 SLC34A1 SLC34A3 SLC3A1 SLC4A1 SLC7A9 SLC9A3R1 UMOD VDR XDH

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

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

Gene
A
ACTC1
Synonym(s): ACTC; ASD5; CMD1R; CMH11; LVNC4

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

ACVR2B
Synonym(s): ActR-IIB; ACTRIIB; HTX4

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

AHI1
Synonym(s): AHI-1; dJ71N10.1; JBTS3; Jouberin; ORF1

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

ALMS1
Synonym(s): ALSS

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

ANKS6
Synonym(s): ANKRD14; NPHP16; PKDR1; SAMD6

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

ARL13B
Synonym(s): ARL2L1; JBTS8

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

ARL6
Synonym(s): BBS3; RP55

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

ARMC4
Synonym(s): CILD23

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

B
B9D1
Synonym(s): B9; EPPB9; MKS9; MKSR1

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

B9D2
Synonym(s): ICIS-1; MKS10; MKSR2

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

BBS1
Synonym(s): BBS2L2

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

BBS10
Synonym(s): C12orf58

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

BBS12
Synonym(s): C4orf24

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

BBS2
Synonym(s): BBS; RP74

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
Synonym(s): BBS2L1

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

BBS9
Synonym(s): B1; C18; D1; PTHB1

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

BCOR
Synonym(s): ANOP2; MAA2; MCOPS2

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

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

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

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

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

CC2D2A
Synonym(s): JBTS9; MKS6

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

CCDC103
Synonym(s): CILD17; PR46b; SMH

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

CCDC114
Synonym(s): CILD20

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

CCDC151
Synonym(s): CILD30

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

CCDC39
Synonym(s): CILD14; FAP59

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

CCDC40
Synonym(s): CILD15; FAP172

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

CCDC65
Synonym(s): CFAP250; CILD27; DRC2; FAP250; NYD-SP28

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

CCNO
Synonym(s): CCNU; CILD29; UDG2

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

CEP104
Synonym(s): CFAP256; GlyBP; JBTS25; KIAA0562; ROC22

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

CEP120
Synonym(s): CCDC100; SRTD13

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
Synonym(s): NPHP15

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

CEP290
Synonym(s): 3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4; NPHP6; POC3; rd16; SLSN6

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
Synonym(s): JBTS15; TSGA14

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

CEP83
Synonym(s): CCDC41; NPHP18; NY-REN-58

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

CFAP298
Synonym(s): C21orf48; CILD26; FBB18; Kur

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

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

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

CHD7
Synonym(s): CRG; HH5; IS3; KAL5

The CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567) and Kallmann syndrome (MedGen UID: 102469).

CPLANE1
Synonym(s): Hug; JBTS17; OFD6

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).

CRELD1
Synonym(s): AVSD2; CIRRIN

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

CSPP1
Synonym(s): CSPP; JBTS21

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).

D
DCDC2
Synonym(s): DCDC2A; DFNB66; NPHP19; RU2; RU2S

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
Synonym(s): CILD13; LRRC50; ODA7

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

DNAAF2
Synonym(s): C14orf104; CILD10; KTU; PF13

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

DNAAF3
Synonym(s): C19orf51; CILD2; DAB1; PCD; PF22

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

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

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

DNAAF5
Synonym(s): CILD18; HEATR2

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

DNAH1
Synonym(s): DNAHC1; HDHC7; HL-11; HL11; HSRF-1; XLHSRF-1

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

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

DNAH5
Synonym(s): CILD3; DNAHC5; HL1; KTGNR; PCD

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

DNAH8
Synonym(s): ATPase; hdhc9

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

DNAI1
Synonym(s): CILD1; DIC1; ICS1; PCD

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

DNAI2
Synonym(s): CILD9; DIC2

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

DNAL1
Synonym(s): C14orf168; CILD16

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

DRC1
Synonym(s): C2orf39; CCDC164; CILD21

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

DYNC2H1
Synonym(s): ATD3; DHC1b; DHC2; DNCH2; DYH1B; hdhc11; SRPS2B; SRTD3

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

E
ELN
Synonym(s): SVAS; WBS; WS

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
Synonym(s): DWF-1; EVC1; EVCL

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
Synonym(s): LBN; WAD

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
FGFR1
Synonym(s): bFGF-R-1; BFGFR; CD331; CEK; ECCL; FGFBR; FGFR-1; FLG; FLT-2; FLT2; HBGFR; HH2; HRTFDS; KAL2; N-SAM; OGD

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

The FGFR2 gene is associated with autosomal dominant forms of craniosynostosis 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
Synonym(s): ACH; CD333; CEK2; HSFGFR3EX; JTK4

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

FOXH1
Synonym(s): FAST-1; FAST1

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

G
GAS8
Synonym(s): CILD33; DRC4; GAS11

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

GATA4
Synonym(s): ASD2; TACHD; TOF; VSD1

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

GATA6

The GATA6 gene has preliminary evidence supporting a correlation with autosomal dominant tetralogy of Fallot (MedGen UID: 21498), atrial septal defects (MedGen UID: 482573), atrioventricular septal defects (MedGen UID: 482569), persistent truncus arteriosus (MIM: 217095), congenital heart defects with pancreatic agenesis (MIM: 600001), dilated cardiomyopathy (DCM) (PMID: 25119427), and atrial fibrillation (MedGen UID: 481323).

GDF1
Synonym(s): DORV; DTGA3; RAI

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

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

GLIS2
Synonym(s): NKL; NPHP7

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

GPC3
Synonym(s): DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS; SGBS1

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

H
HAND1
Synonym(s): bHLHa27; eHand; Hxt; Thing1

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).

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

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

I
IFT122
Synonym(s): CED; CED1; SPG; WDR10; WDR10p; WDR140

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

IFT140
Synonym(s): c305C8.4; c380F5.1; gs114; MZSDS; SRTD9; WDTC2

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

IFT172
Synonym(s): BBS20; KIAA1179; NPHP17; osm-1; RP71; SLB; SRTD10; wim

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
Synonym(s): ATD2; SRTD2; WDR56

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

INPP5E
Synonym(s): CORS1; CPD4; JBTS1; MORMS; PPI5PIV

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

INVS
Synonym(s): INV; NPH2; NPHP2

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

IQCB1
Synonym(s): NPHP5; PIQ; SLSN5

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

J
JAG1
Synonym(s): AGS; AHD; AWS; CD339; HJ1; JAGL1

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

K
KIAA0586
Synonym(s): JBTS23; SRTD14; TALPID3

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

KIF7
Synonym(s): ACLS; AGBK; HLS2; JBTS12; UNQ340

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

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

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

LRRC6
Synonym(s): CILD19; LRTP; TSLRP

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

M
MAP2K1
Synonym(s): CFC3; MAPKK1; MEK1; MKK1; PRKMK1

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

MAP2K2
Synonym(s): CFC4; MAPKK2; MEK2; MKK2; PRKMK2

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

MCIDAS
Synonym(s): IDAS; MCI; MCIN

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

MED13L
Synonym(s): MRFACD; PROSIT240; THRAP2; TRAP240L

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

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

MKS1
Synonym(s): BBS13; MES; MKS; POC12

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

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

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

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

N
NEK1
Synonym(s): NY-REN-55; SRPS2; SRPS2A; SRTD6

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

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

NF1
Synonym(s): NFNS; VRNF; WSS

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

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

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

NKX2-6
Synonym(s): CSX2; CTHM; NKX2F; NKX4-2

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

NME8
Synonym(s): CILD6; HEL-S-99; NM23-H8; sptrx-2; SPTRX2; TXNDC3

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

NODAL
Synonym(s): HTX5

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

NOTCH1
Synonym(s): AOS5; AOVD1; hN1; TAN1

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

NPHP1
Synonym(s): JBTS4; NPH1; SLSN1

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

NPHP3
Synonym(s): CFAP31; MKS7; NPH3; RHPD; RHPD1; SLSN3

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

NPHP4
Synonym(s): POC10; SLSN4

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

NR2F2
Synonym(s): ARP1; CHTD4; COUPTFB; COUPTFII; NF-E3; NR2F1; SVP40; TFCOUP2

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

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

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

NSD1
Synonym(s): ARA267; KMT3B; SOTOS; SOTOS1; STO

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

O
OFD1
Synonym(s): 17-7A; 71-7A; CX0rf5; CXorf5; JBTS10; RP23; SGBS2

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
PDE6D
Synonym(s): JBTS22; PDED

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

PKD2
Synonym(s): APKD2; Pc-2; PC2; PKD4; TRPP2

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

PKHD1
Synonym(s): ARPKD; FCYT; TIGM1

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

PTPN11
Synonym(s): BPTP3; CFC; JMML; METCDS; NS1; PTP-1D; PTP2C; SH-PTP2; SH-PTP3; SHP2

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

Q
R
RAF1
Synonym(s): c-Raf; CMD1NN; CRAF; NS5; Raf-1

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

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

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

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

RPGRIP1L
Synonym(s): CORS3; FTM; JBTS7; MKS5; NPHP8; PPP1R134

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

RSPH1
Synonym(s): CT79; RSP44; RSPH10A; TSA2; TSGA2

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

RSPH3
Synonym(s): CILD32; dJ111C20.1; RSHL2; RSP3

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

RSPH4A
Synonym(s): CILD11; dJ412I7.1; RSHL3; RSPH6B

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

RSPH9
Synonym(s): C6orf206; CILD12; MRPS18AL1

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

S
SDCCAG8
Synonym(s): BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085; NPHP10; NY-CO-8; SLSN7

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

SEMA3E
Synonym(s): coll-5; M-SEMAH; M-SemaK; SEMAH

The SEMA3E gene has preliminary evidence supporting a correlation with Kallmann syndrome (PMID: 25985275).

SHOC2
Synonym(s): SIAA0862; SOC2; SUR8

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

SMAD6
Synonym(s): AOVD2; HsT17432; MADH6; MADH7

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

SOS1
Synonym(s): GF1; GGF1; GINGF; HGF; NS4

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

SPAG1
Synonym(s): CILD28; CT140; HEL-S-268; HSD-3.8; SP75; TPIS

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

SPRED1
Synonym(s): hSpred1; NFLS; PPP1R147; spred-1

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

T
TBX5
Synonym(s): HOS

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

TCTN1
Synonym(s): JBTS13; TECT1

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

TCTN2
Synonym(s): C12orf38; JBTS24; MKS8; TECT2

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
Synonym(s): C10orf61; JBTS18; OFD4; TECT3

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
Synonym(s): HSPC196

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
Synonym(s): HSPC244

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

TMEM231
Synonym(s): ALYE870; JBTS20; MKS11; PRO1886

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

TMEM237
Synonym(s): ALS2CR4; JBTS14

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

TMEM67
Synonym(s): JBTS6; MECKELIN; MKS3; NPHP11; TNEM67

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

TRIM32
Synonym(s): BBS11; HT2A; LGMD2H; TATIP

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

TTC21B
Synonym(s): ATD4; IFT139; IFT139B; JBTS11; Nbla10696; NPHP12; SRTD4; THM1

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

TTC8
Synonym(s): BBS8; RP51

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

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

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

WDR19
Synonym(s): ATD5; CED4; DYF-2; IFT144; NPHP13; ORF26; Oseg6; PWDMP; SRTD5

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
Synonym(s): bA216B9.3; DIC5; FAP133; SRTD11

The WDR34 gene is associated with autosomal recessive short-rib thoracic dysplasia (SRTD) 11 (MedGen UID: 816530).

WDR35
Synonym(s): CED2; IFT121; IFTA1; SRTD7

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
Synonym(s): FAP163; SRPS6; SRTD8

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

X
XPNPEP3
Synonym(s): APP3; ICP55; NPHPL1

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

Y
Z
ZFPM2
Synonym(s): DIH3; FOG2; hFOG-2; SRXY9; ZC2HC11B; ZNF89B

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

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

ZMYND10
Synonym(s): BLU; CILD22; FLU

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

ZNF423
Synonym(s): Ebfaz; hOAZ; JBTS19; NPHP14; OAZ; Roaz; Zfp104; ZFP423

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