PPP2R3C

protein phosphatase 2 regulatory subunit B''gamma
OMIM: 615902, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green PPP2R3C in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM:618419