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| Hair disorders v0.20 | KRT25 | Bryony Thompson Classified gene: KRT25 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.20 | KRT25 | Bryony Thompson Gene: krt25 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.19 | KRT25 |
Bryony Thompson gene: KRT25 was added gene: KRT25 was added to Hair disorders. Sources: Expert list Mode of inheritance for gene: KRT25 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KRT25 were set to 26160856; 26902920; 29686323; 28899683 Phenotypes for gene: KRT25 were set to Woolly hair, autosomal recessive 3 MIM#616760 Review for gene: KRT25 was set to GREEN Added comment: 4 unrelated families homozygous for 2 different missense variants and a single family segregating a heterozygous missense variant, with supporting in vitro functional assays. There is also supporting animal models. Sources: Expert list |
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