Genomics England
GMS Panels
Panels
Genes and Entities

EMC1

ER membrane protein complex subunit 1
OMIM: 616846
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM 616875, Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875