FAM50A

family with sequence similarity 50 member A
OMIM: 300453, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green FAM50A in Mendeliome


Version 1.1891

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation syndrome, X-linked, Armfield type (MIM #300261)

Amber FAM50A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mental retardation syndrome, X-linked, Armfield type (MIM #300261)

    Green FAM50A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mental retardation syndrome, X-linked, Armfield type (MIM #300261)