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| Aortopathy_Connective Tissue Disorders v0.119 | ATP6V0A2 | Zornitza Stark Marked gene: ATP6V0A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.119 | ATP6V0A2 | Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.119 | ATP6V0A2 | Zornitza Stark Classified gene: ATP6V0A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.119 | ATP6V0A2 | Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.100 | ATP6V0A2 |
Ain Roesley gene: ATP6V0A2 was added gene: ATP6V0A2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V0A2 were set to PMID: 23963297 Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA (MIM# 219200), Wrinkly skin syndrome (MIM# 278250) Penetrance for gene: ATP6V0A2 were set to unknown Review for gene: ATP6V0A2 was set to GREEN Added comment: PMID: 23963297; 6 patients from 5 unrelated families with cutis laxa PMID: 30071989; not a gene for HTAAD by clingen working group Sources: Literature |
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