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| Cutis Laxa v0.5 | ATP6V1E1 |
Bryony Thompson changed review comment from: 3 unrelated consanguineous families homozygous for 2 different missense variants (L128P, R212W) with paediatric onset cutis laxa. Molecular anlayses of patient tissues was supportive. Sources: Expert list; to: 3 unrelated consanguineous families homozygous for 2 different missense variants (L128P, R212W) with paediatric onset cutis laxa. Molecular analyses of patient tissues was supportive. Sources: Expert list |
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| Cutis Laxa v0.3 | ATP6V1E1 | Bryony Thompson Marked gene: ATP6V1E1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutis Laxa v0.3 | ATP6V1E1 | Bryony Thompson Gene: atp6v1e1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutis Laxa v0.3 | ATP6V1E1 | Bryony Thompson Classified gene: ATP6V1E1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutis Laxa v0.3 | ATP6V1E1 | Bryony Thompson Gene: atp6v1e1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutis Laxa v0.2 | ATP6V1E1 |
Bryony Thompson gene: ATP6V1E1 was added gene: ATP6V1E1 was added to Cutis Laxa. 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 homozygous for 2 different missense variants (L128P, R212W) with paediatric onset cutis laxa. Molecular anlayses of patient tissues was supportive. Sources: Expert list |
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