Genomics England
GMS Panels
Panels
Genes and Entities

PHF5A

PHD finger protein 5A
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PHF5A-related neurodevelopmental disorder with congenital malformations, neurodevelopmental disorder, MONDO:0700092
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PHF5A-related neurodevelopmental disorder with congenital malformations, neurodevelopmental disorder, MONDO:0700092