Genomics England
GMS Panels
Panels
Genes and Entities

EMC1

ER membrane protein complex subunit 1
OMIM: 616846
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy., Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic, Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Monoallelic
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875