PPP2R3C

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber PPP2R3C in Differences in sex development


Level 2: Endocrinology
Version 4.41
Latest signed off version: v4.22 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myoectodermal gonadal dysgenesis syndrome, OMIM:618419
  • gonadal dysgenesis, MONDO:0001967
Tags
  • Q4_26_promote_green
Green PPP2R3C in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.31
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM:618419
Amber PPP2R3C in Paediatric disorders - additional genes


Level 2: Developmental disorders
Version 8.34
Latest signed off version: v8.8 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Myoectodermal gonadal dysgenesis syndrome, OMIM:618419
    • gonadal dysgenesis, MONDO:0001967
    Tags
    • Q4_26_promote_green
    Amber PPP2R3C in Monogenic short stature


    Level 2: Endocrinology
    Version 2.15
    Latest signed off version: v2.8 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Myoectodermal gonadal dysgenesis syndrome, OMIM:618419
    • gonadal dysgenesis, MONDO:0001967
    Tags
    • Q4_26_promote_green