Genomics England
GMS Panels
Panels
Genes and Entities

ASCC3

activating signal cointegrator 1 complex subunit 3
OMIM: 614217
PanelMode of inheritanceDetails
1 panel
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy, MONDO:0019952, Intellectual developmental disorder, autosomal recessive 81, OMIM:620700