Genomics England
GMS Panels
Panels
Genes and Entities

FAM50A

family with sequence similarity 50 member A
OMIM: 300453
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation syndrome, X-linked, Armfield type, OMIM:300261, Armfield syndrome, MONDO:0010284