Genomics England
GMS Panels
Panels
Genes and Entities

PHF21A

PHD finger protein 21A
OMIM: 608325
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
POTOCKI-SHAFFER SYNDROME 601224
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Potocki-Shaffer syndrome, 601224, PSS, Intellectual disability, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, 618725