WDR37 Chromosome 10
WD repeat domain 37
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What This Gene Does
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
10p15.3
Ensembl
ENSG00000047056
Associated Conditions (7)
Neurooculocardiogenitourinary syndrome
WDR37-related disorder
6 conditions
Cerebellar vermis hypoplasia
Ventriculomegaly
Congenital cerebellar hypoplasia
Inborn genetic diseases
Key Variants
RS1833994284
Conflicting classifications of pathogenicity
Neurooculocardiogenitourinary syndrome, Neurooculocardiogenitourinary syndrome
Health Risk
RS754944605
Conflicting classifications of pathogenicity
WDR37-related disorder, WDR37-related disorder
Health Risk
RS1311664509
Likely pathogenic
Neurooculocardiogenitourinary syndrome, Neurooculocardiogenitourinary syndrome
Health Risk
RS1589088702
Likely pathogenic
Neurooculocardiogenitourinary syndrome, 6 conditions, Neurooculocardiogenitourinary syndrome
Health Risk
RS2131630556
Likely pathogenic
Neurooculocardiogenitourinary syndrome, Neurooculocardiogenitourinary syndrome
Health Risk
RS2131646026
Likely pathogenic
Neurooculocardiogenitourinary syndrome, Neurooculocardiogenitourinary syndrome
Health Risk
RS2490748562
Likely pathogenic
Neurooculocardiogenitourinary syndrome, Neurooculocardiogenitourinary syndrome
Health Risk
RS1554823375
Pathogenic/Likely pathogenic
6 conditions, Cerebellar vermis hypoplasia, Ventriculomegaly
Health Risk
RS1589088690
Pathogenic/Likely pathogenic
Neurooculocardiogenitourinary syndrome, 6 conditions, Neurooculocardiogenitourinary syndrome
Health Risk
RS1589088703
Pathogenic/Likely pathogenic
Neurooculocardiogenitourinary syndrome, 6 conditions, Inborn genetic diseases
Health Risk
RS2131625525
Pathogenic/Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1833994284 | Health Risk | Conflicting classifications of pathogenicity | Neurooculocardiogenitourinary syndrome, Neurooculocardiogenitourinary syndrome |
| RS754944605 | Health Risk | Conflicting classifications of pathogenicity | WDR37-related disorder, WDR37-related disorder |
| RS1311664509 | Health Risk | Likely pathogenic | Neurooculocardiogenitourinary syndrome, Neurooculocardiogenitourinary syndrome |
| RS1589088702 | Health Risk | Likely pathogenic | Neurooculocardiogenitourinary syndrome, 6 conditions, Neurooculocardiogenitourinary syndrome |
| RS2131630556 | Health Risk | Likely pathogenic | Neurooculocardiogenitourinary syndrome, Neurooculocardiogenitourinary syndrome |
| RS2131646026 | Health Risk | Likely pathogenic | Neurooculocardiogenitourinary syndrome, Neurooculocardiogenitourinary syndrome |
| RS2490748562 | Health Risk | Likely pathogenic | Neurooculocardiogenitourinary syndrome, Neurooculocardiogenitourinary syndrome |
| RS1554823375 | Health Risk | Pathogenic/Likely pathogenic | 6 conditions, Cerebellar vermis hypoplasia, Ventriculomegaly |
| RS1589088690 | Health Risk | Pathogenic/Likely pathogenic | Neurooculocardiogenitourinary syndrome, 6 conditions, Neurooculocardiogenitourinary syndrome |
| RS1589088703 | Health Risk | Pathogenic/Likely pathogenic | Neurooculocardiogenitourinary syndrome, 6 conditions, Inborn genetic diseases |
| RS2131625525 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |