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| Hair disorders v0.46 | SNRPE | Zornitza Stark Classified gene: SNRPE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.46 | SNRPE | Zornitza Stark Gene: snrpe has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.45 | SNRPE | Zornitza Stark reviewed gene: SNRPE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypotrichosis 11, MIM#615059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.14 | SNRPE | Bryony Thompson Marked gene: SNRPE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.14 | SNRPE | Bryony Thompson Gene: snrpe has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.14 | SNRPE | Bryony Thompson Classified gene: SNRPE as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.14 | SNRPE | Bryony Thompson Gene: snrpe has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.13 | SNRPE |
Bryony Thompson gene: SNRPE was added gene: SNRPE was added to Hair disorders. Sources: NHS GMS Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SNRPE were set to 23246290 Phenotypes for gene: SNRPE were set to Hypotrichosis 11 MIM#615059 Review for gene: SNRPE was set to AMBER Added comment: 3 unrelated families with 2 different variants (segregation of Met1? variant in 2 families), and supporting in vitro functional assays. Sources: NHS GMS |
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