WDR19 Chromosome 4

WD repeat domain 19
152 variants 152 Health Risk

Upload your DNA to see your personal genotypes for variants in WDR19.

What This Gene Does
The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
"WD repeat domain containing|IFT-A complex"
Locus Type
gene with protein product
Location
4p14
Ensembl
ENSG00000157796
Associated Conditions (28)
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Inborn genetic diseases
Senior-Loken syndrome 8
Nephronophthisis 13
Spermatogenic failure 72
WDR19-related disorder
Connective tissue disorder
Clear cell carcinoma of kidney
Colorectal cancer
Ovarian serous cystadenocarcinoma
Nonpapillary renal cell carcinoma
Lung cancer
Cervical cancer
Familial cancer of breast
Glioma susceptibility 1
Hepatocellular carcinoma
Malignant tumor of esophagus
Retinal dystrophy
Jeune thoracic dystrophy
+8 more conditions
Key Variants
RS1024499799
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4, Inborn genetic diseases
Health Risk
RS138364911
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Nephronophthisis 13
Health Risk
RS141039852
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
Health Risk
RS144335584
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Cranioectodermal dysplasia 4
Health Risk
RS1733504639
Conflicting classifications of pathogenicity
Inborn genetic diseases, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
Health Risk
RS187332731
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4, Senior-Loken syndrome 8
Health Risk
RS187546086
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4, Senior-Loken syndrome 8
Health Risk
RS190192706
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Cranioectodermal dysplasia 4
Health Risk
RS199546190
Conflicting classifications of pathogenicity
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4
Health Risk
RS199765304
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4, Senior-Loken syndrome 8
Health Risk
RS199904529
Conflicting classifications of pathogenicity
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Inborn genetic diseases
Health Risk
RS199991653
Conflicting classifications of pathogenicity
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4
Health Risk
All Variants (152)
RSID Category Clinical Significance Conditions
RS2109377653 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS2109405851 Health Risk Pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS2109521864 Health Risk Pathogenic Spermatogenic failure 72, Spermatogenic failure 72
RS2475075477 Health Risk Pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS2475185859 Health Risk Pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS2475187976 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS2475219909 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS2475220370 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS2475270352 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS2475315582 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS2475315591 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS2475315841 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS2475320731 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS374400438 Health Risk Pathogenic Senior-Loken syndrome 8, Senior-Loken syndrome 8
RS375644378 Health Risk Pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS387906980 Health Risk Pathogenic Cranioectodermal dysplasia 4, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS387906981 Health Risk Pathogenic Cranioectodermal dysplasia 4, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS387906982 Health Risk Pathogenic Asphyxiating thoracic dystrophy 5, Asphyxiating thoracic dystrophy 5
RS387906983 Health Risk Pathogenic Nephronophthisis 13, Nephronophthisis 13
RS556869079 Health Risk Pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS587777348 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Spermatogenic failure 72
RS587777350 Health Risk Pathogenic Nephronophthisis 13, Nephronophthisis 13
RS747165335 Health Risk Pathogenic Jeune thoracic dystrophy, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS748174246 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS771148519 Health Risk Pathogenic Cranioectodermal dysplasia, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS772599282 Health Risk Pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS774658703 Health Risk Pathogenic —
RS778039192 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS786204852 Health Risk Pathogenic Senior-Loken syndrome 8, Senior-Loken syndrome 8
RS786205114 Health Risk Pathogenic Nephronophthisis 13, Nephronophthisis 13
RS978366659 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1237494778 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1273811425 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, WDR19-related disorder
RS1327583103 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 5, Spermatogenic failure 72, Nephronophthisis 13
RS1353172956 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Spermatogenic failure 72
RS1401145684 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4
RS1421636172 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 8, Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5
RS1451698951 Health Risk Pathogenic/Likely pathogenic Type IV short rib polydactyly syndrome, Type IV short rib polydactyly syndrome
RS1553905326 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1577823005 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS2475203506 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Nephronophthisis 13
RS377160857 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS587777351 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 13, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS587777352 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 8, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 5
RS748656635 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Nephronophthisis 13, Senior-Loken syndrome 8
RS751290509 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS775181779 Health Risk Pathogenic/Likely pathogenic Cone dystrophy, Senior-Loken syndrome 8, Spermatogenic failure 72
RS780847651 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13
RS79436363 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia
RS886039814 Health Risk Pathogenic/Likely pathogenic Cranioectodermal dysplasia, Senior-Loken syndrome 8, Cranioectodermal dysplasia
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