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| Mendeliome v1.4378 | PI4KB | Bryony Thompson Classified gene: PI4KB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4378 | PI4KB | Bryony Thompson Gene: pi4kb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4377 | PI4KB |
Bryony Thompson gene: PI4KB was added gene: PI4KB was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PI4KB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PI4KB were set to 33358777 Phenotypes for gene: PI4KB were set to hearing loss, autosomal dominant 87 MONDO:0859525 Review for gene: PI4KB was set to GREEN Added comment: A missense variant (p.Gln121Arg) segregating in a family and 3 other missense variants (p.Val434Gly, p.Glu667Lys, p.Met739Arg) were identified in 5 unrelated "sporadic" cases. All 4 missense variants were overexpressed in zebrafish embryos, resulting in impaired hearing function, and a null zebrafish model had inner ear abnormalities and audiosensory impairment. Missense showed to have dominant negative effects. Sources: Literature |
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