Genomics England
GMS Panels
Panels
Genes and Entities
CPSF3
cleavage and polyadenylation specific factor 3
OMIM:
606029
See this entity in PanelApp
Panel
Mode of inheritance
Details
Filter panels
1 panel
Green
in
DDG2P
Component of the following Super Panels:
- Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CPSF3-associated neurodevelopmental disorder with seizures and microcephaly