Genomics England
GMS Panels
Panels
Genes and Entities

CPSF3

cleavage and polyadenylation specific factor 3
OMIM: 606029
PanelMode of inheritanceDetails
1 panel
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CPSF3-associated neurodevelopmental disorder with seizures and microcephaly