1. Genes and Genomic Entities
  2. GOLGA2

GOLGA2

golgin A2
OMIM: 602580, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber GOLGA2 in Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.23
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • London South GLH
    Phenotypes
    • Developmental delay with hypotonia, myopathy, and brain abnormalities, OMIM:620240
    Tags
    • Q4_23_promote_green
    • Q4_23_NHS_review
    Green GOLGA2 in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • GOLGA2-related myopathy, seizures and microcephaly