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Hair disorders v0.39 RNF113A Bryony Thompson edited their review of gene: RNF113A: Changed publications: 25612912, 31880405, 31793730
Hair disorders v0.39 RNF113A Bryony Thompson changed review comment from: 3 unrelated families with the diagnostic hair features of trichothiodystrophy and evidence in patient cells supporting a mechanism of loss of function.; to: 5 families with 3 different truncating variants, with the diagnostic hair features of trichothiodystrophy and evidence in patient cells supporting a mechanism of loss of function.
Hair disorders v0.5 RNF113A Bryony Thompson Marked gene: RNF113A as ready
Hair disorders v0.5 RNF113A Bryony Thompson Gene: rnf113a has been classified as Green List (High Evidence).
Hair disorders v0.3 RNF113A Bryony Thompson reviewed gene: RNF113A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25612912, 31880405; Phenotypes: Trichothiodystrophy 5, nonphotosensitive MIM##300953; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hair disorders v0.0 RNF113A Bryony Thompson gene: RNF113A was added
gene: RNF113A was added to Hair disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: RNF113A were set to 31332722
Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive, 300953