Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Hereditary Pigmentary Disorders v0.35 | ACD | Bryony Thompson Marked gene: ACD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Pigmentary Disorders v0.35 | ACD | Bryony Thompson Gene: acd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Pigmentary Disorders v0.35 | ACD | Bryony Thompson Classified gene: ACD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Pigmentary Disorders v0.35 | ACD | Bryony Thompson Gene: acd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Pigmentary Disorders v0.16 | ACD |
Bryony Thompson gene: ACD was added gene: ACD was added to Hereditary Pigmentary Disorders. Sources: Literature Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ACD were set to 27807141; 31515401; 30995915; 27528712; 25205116; 24316971; 30064976; 33446513; 25233904 Phenotypes for gene: ACD were set to ACD-related short telomere syndrome MONDO:0100569 |