WDR91 Chromosome 7
WD repeat domain 91
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What This Gene Does
Enables phosphatidylinositol 3-kinase inhibitor activity. Involved in early endosome to late endosome transport and regulation of protein catabolic process. Located in cytosol; early endosome membrane; and late endosome membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"WD repeat domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
7q33
Ensembl
ENSG00000105875
Associated Conditions (2)
See cases
Neurodevelopmental disorder with brain malformations and multiple congenital anomalies
Key Variants
RS1831437006
Likely pathogenic
Health Risk
RS769097070
Likely pathogenic
See cases, See cases
Health Risk
RS2537130353
Pathogenic
Health Risk
RS373727223
Pathogenic
Neurodevelopmental disorder with brain malformations and multiple congenital anomalies, Neurodevelopmental disorder with brain malformations and multiple congenital anomalies
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1831437006 | Health Risk | Likely pathogenic | — |
| RS769097070 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2537130353 | Health Risk | Pathogenic | — |
| RS373727223 | Health Risk | Pathogenic | Neurodevelopmental disorder with brain malformations and multiple congenital anomalies, Neurodevelopmental disorder with brain malformations and multiple congenital anomalies |