GOLGA2

golgin A2
OMIM: 602580, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green GOLGA2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240

Green GOLGA2 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240

Green GOLGA2 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240

    Green GOLGA2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240

    Amber GOLGA2 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240