Genomics England
GMS Panels
Panels
Genes and Entities

RIMS2

regulating synaptic membrane exocytosis 2
OMIM: 606630
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RIMS2 Syndromic Congenital Cone-Rod Synaptic Disease
Green
in Retinal disorders
R-numbers: R32
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod synaptic disorder syndrome, congenital nonprogressive, OMIM:618970