Congenital Stationary Night Blindness
Gene: RIMS2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970
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: LiteratureCreated: 1 Jun 2020, 5:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
nystagmus; retinal dysfunction; autism; night blindness
Publications
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
Gene: rims2 has been classified as Green List (High Evidence).
Gene: rims2 has been classified as Green List (High Evidence).
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