Activity
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5 actions
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| Syndromic Retinopathy v0.218 | POLA2 | Bryony Thompson Marked gene: POLA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.218 | POLA2 | Bryony Thompson Gene: pola2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.218 | POLA2 | Bryony Thompson Classified gene: POLA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.218 | POLA2 | Bryony Thompson Gene: pola2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.217 | POLA2 |
Bryony Thompson gene: POLA2 was added gene: POLA2 was added to Syndromic Retinopathy. Sources: Literature Mode of inheritance for gene: POLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLA2 were set to 39616267 Phenotypes for gene: POLA2 were set to Telomere biology syndrome MONDO:0100137 Review for gene: POLA2 was set to GREEN Added comment: Retinal telangiectasias/exudates (Coats disease) is a feature of the phenotype. 5 cases from 2 unrelated families with biallelic variants with functional evidence supporting an effect on telomere length. Sources: Literature |
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