Activity
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| Aortopathy_Connective Tissue Disorders v1.3 | ATP6V1E1 | Zornitza Stark Marked gene: ATP6V1E1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.3 | ATP6V1E1 | Zornitza Stark Gene: atp6v1e1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.158 | ATP6V1E1 | Bryony Thompson Classified gene: ATP6V1E1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.158 | ATP6V1E1 | Bryony Thompson Gene: atp6v1e1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.157 | ATP6V1E1 |
Bryony Thompson gene: ATP6V1E1 was added gene: ATP6V1E1 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: ATP6V1E1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1E1 were set to 28065471; 27023906 Phenotypes for gene: ATP6V1E1 were set to Cutis laxa, autosomal recessive, type IIC MIM#617402 Review for gene: ATP6V1E1 was set to GREEN Added comment: 3 unrelated consanguineous families from Iran, Kuwait, and Saudi Arabia, homozygous for 2 different missense variants (L128P, R212W) with paediatric onset cutis laxa, each segregating in an affected sibling. Molecular analyses of patient tissues was supportive: complexome profiling in cultured fibroblasts showed a markedly reduced abundance of the assembled V1 domain and of the complete membrane-bound V1V0 complex. Sources: Expert list |
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