Genomics England
GMS Panels
Panels
Genes and Entities

YWHAE

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
OMIM: 605066
PanelMode of inheritanceDetails
1 panel
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
YWHAE-related developmental delay, seizures, hypotonia and brain abnormalities