Genomics England
GMS Panels
Panels
Genes and Entities

FGF13

fibroblast growth factor 13
OMIM: 300070
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
FGF13-related neurodevelopmental disorder (X-linked dominant), FGF13-related neurodevelopmental disorder (hemizygous)
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Developmental and epileptic encephalopathy, Intellectual disability, Infantile-onset seizures