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| Autism v0.15 | RIMS2 |
Zornitza Stark gene: RIMS2 was added gene: RIMS2 was added to Autism. 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 gene: RIMS2 was marked as current diagnostic Added comment: Biallelic LoF variants reported to segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Most reported as having autism. Sources: Literature |
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