1. Genes and Genomic Entities
  2. FAM50A

FAM50A

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber FAM50A in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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 Amber
    • Literature
    Phenotypes
    • Mental retardation syndrome, X-linked, Armfield type, OMIM:300261
    • Armfield syndrome, MONDO:0010284
    Green FAM50A in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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, OMIM:300261
    • Armfield syndrome, MONDO:0010284