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| Syndromic Retinopathy v0.23 | ERCC8 |
Bryony Thompson gene: ERCC8 was added gene: ERCC8 was added to Syndromic Retinopathy. Sources: Literature Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC8 were set to 26204423 Phenotypes for gene: ERCC8 were set to Cockayne syndrome, type A MIM#216400 Review for gene: ERCC8 was set to GREEN Added comment: Retinal dystrophy was reported as a feature of the condition in 43% of cases in a cohort of 108 individuals in 81 families. Genetic confirmation of CS was available in 40 pedigrees: ERCC6 mutations were found in 28 (70%), ERCC8 mutations in 11 (27.5%). Sources: Literature |
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| Syndromic Retinopathy v0.22 | ERCC6 | Bryony Thompson Classified gene: ERCC6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.22 | ERCC6 | Bryony Thompson Gene: ercc6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.21 | ERCC6 |
Bryony Thompson gene: ERCC6 was added gene: ERCC6 was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC6 were set to 26204423 Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B MIM#133540 Review for gene: ERCC6 was set to GREEN Added comment: Retinal dystrophy was reported as a feature of the condition in 43% of cases in a cohort of 108 individuals in 81 families. Genetic confirmation of CS was available in 40 pedigrees: ERCC6 mutations were found in 28 (70%), ERCC8 mutations in 11 (27.5%). Sources: Expert list |
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