Genomics England
GMS Panels
Panels
Genes and Entities

PPP2R3C

protein phosphatase 2 regulatory subunit B''gamma
OMIM: 615902
PanelMode of inheritanceDetails
1 panel
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM:618419