Genomics England
GMS Panels
Panels
Genes and Entities

GOLGA2

golgin A2
OMIM: 602580
PanelMode of inheritanceDetails
2 panels
Green
in Congenital muscular dystrophy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R79
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental delay with hypotonia, myopathy, and brain abnormalities, OMIM:620240
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GOLGA2-related myopathy, seizures and microcephaly