| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hair disorders v0.30 | TSPEAR | Bryony Thompson Marked gene: TSPEAR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.30 | TSPEAR | Bryony Thompson Gene: tspear has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.30 | TSPEAR | Bryony Thompson Classified gene: TSPEAR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.30 | TSPEAR | Bryony Thompson Gene: tspear has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.29 | TSPEAR |
Bryony Thompson gene: TSPEAR was added gene: TSPEAR was added to Hair disorders. Sources: Expert list Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSPEAR were set to 27736875 Phenotypes for gene: TSPEAR were set to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis MIM#618180 Review for gene: TSPEAR was set to GREEN Added comment: 2 frameshift and 2 missense variants segregating with disease phenotype, which includes hair abnormalities in 3 families, and supporting functional assays. Sources: Expert list |
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