| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cutis Laxa v0.5 | ATP6V1A | Bryony Thompson Marked gene: ATP6V1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutis Laxa v0.5 | ATP6V1A | Bryony Thompson Gene: atp6v1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutis Laxa v0.5 | ATP6V1A | Bryony Thompson Classified gene: ATP6V1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutis Laxa v0.5 | ATP6V1A | Bryony Thompson Gene: atp6v1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutis Laxa v0.4 | ATP6V1A |
Bryony Thompson gene: ATP6V1A was added gene: ATP6V1A was added to Cutis Laxa. Sources: Literature Mode of inheritance for gene: ATP6V1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1A were set to 28065471 Phenotypes for gene: ATP6V1A were set to Cutis laxa, autosomal recessive, type IID MIM#617403 Review for gene: ATP6V1A was set to GREEN Added comment: 3 unrelated consanguineous families homozygous for 2 different missense variants (G72D, R338C), with supportive molecular analyses of patient cells. Sources: Literature |
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