| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Syndromic Retinopathy v0.62 | SRD5A3 | Bryony Thompson Marked gene: SRD5A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.62 | SRD5A3 | Bryony Thompson Gene: srd5a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.62 | SRD5A3 | Bryony Thompson Classified gene: SRD5A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.62 | SRD5A3 | Bryony Thompson Gene: srd5a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.61 | SRD5A3 |
Bryony Thompson gene: SRD5A3 was added gene: SRD5A3 was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRD5A3 were set to 31638560 Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq MIM#612379 Review for gene: SRD5A3 was set to GREEN Added comment: Retinopathy is a reported feature of the condition in >3 cases. Sources: Expert list |
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