| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hair disorders v0.61 | FAM111B | Bryony Thompson Marked gene: FAM111B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.61 | FAM111B | Bryony Thompson Gene: fam111b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.61 | FAM111B | Bryony Thompson Classified gene: FAM111B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.61 | FAM111B | Bryony Thompson Gene: fam111b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.60 | FAM111B |
Bryony Thompson gene: FAM111B was added gene: FAM111B was added to Hair disorders. Sources: Literature Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FAM111B were set to 24268661; 26471370; 26495788; 27406236 Phenotypes for gene: FAM111B were set to hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310 Mode of pathogenicity for gene: FAM111B was set to Other Review for gene: FAM111B was set to GREEN gene: FAM111B was marked as current diagnostic Added comment: >10 families/cases reported with fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Hypotrichosis with sparse scalp hair, sparse or absent eyelashes and/or eyebrows is a prominent feature of the condition. Mechanism of disease is unknown, but is expected to be dominant-negative effect. Sources: Literature |
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