| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Aortopathy_Connective Tissue Disorders v0.150 | ATP6V1A | Zornitza Stark Classified gene: ATP6V1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.150 | ATP6V1A | Zornitza Stark Gene: atp6v1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.149 | ATP6V1A | Zornitza Stark reviewed gene: ATP6V1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28065471; Phenotypes: Cutis laxa, autosomal recessive, type IID, MIM# 617403; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.140 | ATP6V1A | Zornitza Stark Marked gene: ATP6V1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.140 | ATP6V1A | Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.140 | ATP6V1A | Zornitza Stark Classified gene: ATP6V1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.140 | ATP6V1A | Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.138 | ATP6V1A | Ain Roesley edited their review of gene: ATP6V1A: Changed publications: 28065471 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.138 | ATP6V1A |
Ain Roesley gene: ATP6V1A was added gene: ATP6V1A was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: ATP6V1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1A were set to PMID: 28065471 Phenotypes for gene: ATP6V1A were set to Cutis laxa, autosomal recessive, type IID (MIM# 617403) Penetrance for gene: ATP6V1A were set to unknown Review for gene: ATP6V1A was set to GREEN Added comment: PMID: 28065471; - 3 families (including 2 consanguineous) with homozygous missense - in vitro assays using patients' fibroblasts demonstrated the variants disrupted V-ATPase complex assembly and stability Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||