| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Syndromic Retinopathy v0.66 | TMEM231 | Bryony Thompson Marked gene: TMEM231 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.66 | TMEM231 | Bryony Thompson Gene: tmem231 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.66 | TMEM231 | Bryony Thompson Classified gene: TMEM231 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.66 | TMEM231 | Bryony Thompson Gene: tmem231 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.65 | TMEM231 |
Bryony Thompson gene: TMEM231 was added gene: TMEM231 was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM231 were set to 23012439; 27449316 Phenotypes for gene: TMEM231 were set to Joubert syndrome 20 MIM#614970 Review for gene: TMEM231 was set to GREEN Added comment: Three unrelated families reported with retinopathy as a feature of the condition. Sources: Expert list |
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