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 - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875