Genomics England
GMS Panels
Panels
Genes and Entities

PHF5A

PHD finger protein 5A
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
PHF5A-related neurodevelopmental disorder with congenital malformations