RIMS2

regulating synaptic membrane exocytosis 2
OMIM: 606630, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RIMS2 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews 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 2.0

2 reviews 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 1.0

2 reviews 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 1.0

2 reviews 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 2.0

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