Genomics England
GMS Panels
Panels
Genes and Entities

PPFIA3

PTPRF interacting protein alpha 3
OMIM: 603144
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
PPFIA3-related neurodevelopmental disorder
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Paul-Chao neurodevelopmental syndrome, OMIM:621122