| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v0.3561 | KRT71 | Bryony Thompson Marked gene: KRT71 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3561 | KRT71 | Bryony Thompson Gene: krt71 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3561 | KRT71 | Bryony Thompson Classified gene: KRT71 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3561 | KRT71 | Bryony Thompson Gene: krt71 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3560 | KRT71 |
Bryony Thompson gene: KRT71 was added gene: KRT71 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: KRT71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT71 were set to 14632181; 22592156; 19713490 Phenotypes for gene: KRT71 were set to ?Hypotrichosis 13, 615896 Review for gene: KRT71 was set to AMBER Added comment: A single family with 3 affected members of a 3-generation Japanese family segregating a missense variant (F141C) with autosomal dominant woolly hair/hypotrichosis, with supporting functional assays and animal models. Sources: Literature |
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