RIMS2

regulating synaptic membrane exocytosis 2
OMIM: 606630, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RIMS2 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.198

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • nystagmus
  • retinal dysfunction
  • autism
  • night blindness
  • Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970

Green RIMS2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • nystagmus
  • retinal dysfunction
  • autism
  • night blindness
  • Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970

Green RIMS2 in Congenital Stationary Night Blindness


Level 2: Ophthalmological disorders
Version 0.23

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • nystagmus
    • retinal dysfunction
    • autism
    • night blindness
    • Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970

    Green RIMS2 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.209

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970

    Green RIMS2 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.21

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970