1. Genes and Genomic Entities
  2. RIMS2

RIMS2

regulating synaptic membrane exocytosis 2
OMIM: 606630, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
No list RIMS2 in Autism


Version 0.36

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • nystagmus
  • retinal dysfunction
  • autism
  • night blindness
Green RIMS2 in DDG2P


Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RIMS2 Syndromic Congenital Cone-Rod Synaptic Disease
    Green RIMS2 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.90
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cone-rod synaptic disorder syndrome, congenital nonprogressive, OMIM:618970