Genomics England
GMS Panels
Panels
Genes and Entities

AFF2

AF4/FMR2 family member 2
OMIM: 300806
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
FRAGILE X-E MENTAL RETARDATION SYNDROME 309548
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, biallelic mutations in females
Phenotypes
Mental retardation, X-linked, FRAXE type, 309548, FRAXE Syndrome, FRAGILE X-E MENTAL RETARDATION SYNDROME (FRAXE)