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| Hair disorders v0.81 | KRT32 | Bryony Thompson Marked gene: KRT32 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.81 | KRT32 | Bryony Thompson Gene: krt32 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.81 | KRT32 |
Bryony Thompson gene: KRT32 was added gene: KRT32 was added to Hair disorders. Sources: Literature Mode of inheritance for gene: KRT32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT32 were set to 40814173 Phenotypes for gene: KRT32 were set to loose anagen syndrome MONDO:0010908 Review for gene: KRT32 was set to RED Added comment: A single family with loose anagen hair syndrome co-segregating (c.296C>T; p.Thr99Ile) in a large family; however, the AF in the European population is 0.3% in gnomAD v4.1 (6 homozygotes), which is higher than expected for a dominant condition and it would be expected that this phenotype has been reported in association with the variant/gene previously. In vitro functional assay showing the variant alters interaction with KRT82; however, only WT & the variant were assessed (no positive control). Sources: Literature |
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