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
RS780963454 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4, Senior-Loken syndrome 8
RS886059398 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1064796985 Health Risk Likely pathogenic —
RS1064796986 Health Risk Likely pathogenic —
RS1191056931 Health Risk Likely pathogenic Jeune thoracic dystrophy, Senior-Loken syndrome 8, Cranioectodermal dysplasia 4
RS1221444922 Health Risk Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1232649308 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS1338996032 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS1460409474 Health Risk Likely pathogenic Cranioectodermal dysplasia 4, Cranioectodermal dysplasia 4
RS1553918403 Health Risk Likely pathogenic Type IV short rib polydactyly syndrome, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS1560541088 Health Risk Likely pathogenic —
RS1560557536 Health Risk Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1577943445 Health Risk Likely pathogenic —
RS1727827349 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS1728876351 Health Risk Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13
RS1729264976 Health Risk Likely pathogenic Nephronophthisis 13, Asphyxiating thoracic dystrophy 5, Saldino-Mainzer syndrome
RS1730093487 Health Risk Likely pathogenic Nephronophthisis 13, Nephronophthisis 13
RS1730514795 Health Risk Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1730515128 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS2109300967 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS2109322692 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS2109497413 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Senior-Loken syndrome 8
RS2475082619 Health Risk Likely pathogenic Nephronophthisis 13, Nephronophthisis 13
RS2475127412 Health Risk Likely pathogenic Nephronophthisis 13, Nephronophthisis 13
RS2475202450 Health Risk Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS2475244297 Health Risk Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS745603321 Health Risk Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS753291151 Health Risk Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS756329385 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS766616967 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Saldino-Mainzer syndrome
RS776416706 Health Risk Likely pathogenic Senior-Loken syndrome 8, Familial cancer of breast, Senior-Loken syndrome 8
RS776687469 Health Risk Likely pathogenic —
RS890152763 Health Risk Likely pathogenic Inborn genetic diseases, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1020915921 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Renal dysplasia and retinal aplasia
RS1183249870 Health Risk Pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS1215108056 Health Risk Pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1232301082 Health Risk Pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS1237821935 Health Risk Pathogenic Cranioectodermal dysplasia 4, Cranioectodermal dysplasia 4
RS1334092486 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1340305839 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1446393665 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1476588496 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1553907440 Health Risk Pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS1577822861 Health Risk Pathogenic Asphyxiating thoracic dystrophy 5, Asphyxiating thoracic dystrophy 5
RS1727874138 Health Risk Pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS1730535406 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1731221844 Health Risk Pathogenic Nephronophthisis 13, Nephronophthisis 13
RS2109299952 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS2109322891 Health Risk Pathogenic Cranioectodermal dysplasia 4, Cranioectodermal dysplasia 4
RS2109358597 Health Risk Pathogenic Nephronophthisis 13, Nephronophthisis 13
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