| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Syndromic Retinopathy v0.134 | RIMS2 | Zornitza Stark Marked gene: RIMS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.134 | RIMS2 | Zornitza Stark Gene: rims2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.134 | RIMS2 | Zornitza Stark Classified gene: RIMS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.134 | RIMS2 | Zornitza Stark Gene: rims2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.133 | RIMS2 |
Zornitza Stark gene: RIMS2 was added gene: RIMS2 was added to Syndromic Retinopathy. Sources: Expert Review Mode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIMS2 were set to 32470375 Phenotypes for gene: RIMS2 were set to Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970 Review for gene: RIMS2 was set to GREEN Added comment: Biallelic LoF variants reported with syndromic congenital cone-rod synaptic disease in 7 individuals from 4 families. Several individuals had autism. One had night blindness. Sources: Expert Review |
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