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| Congenital Stationary Night Blindness v0.4 | RIMS2 | Zornitza Stark Phenotypes for gene: RIMS2 were changed from nystagmus; retinal dysfunction; autism; night blindness to nystagmus; retinal dysfunction; autism; night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.3 | RIMS2 | Zornitza Stark reviewed gene: RIMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.3 | RIMS2 | Zornitza Stark Marked gene: RIMS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.3 | RIMS2 | Zornitza Stark Gene: rims2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.3 | RIMS2 | Zornitza Stark Classified gene: RIMS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.3 | RIMS2 | Zornitza Stark Gene: rims2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Stationary Night Blindness v0.2 | RIMS2 |
Paul De Fazio gene: RIMS2 was added gene: RIMS2 was added to Congenital Stationary Night Blindness. Sources: Literature 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 nystagmus; retinal dysfunction; autism; night blindness Review for gene: RIMS2 was set to GREEN Added comment: Biallelic LoF variants segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant. Several individuals had autism. One had night blindness. Sources: Literature |
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