PPP2R3C

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PPP2R3C in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

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

Green PPP2R3C in Mendeliome


Version 1.1891

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

Green PPP2R3C in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 0.209

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419

    Green PPP2R3C in Fetal anomalies


    Version 1.255

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