PPP1R12A

protein phosphatase 1 regulatory subunit 12A
OMIM: 602021, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green PPP1R12A in Malformations of cortical development


Level 2: Neurology
Version 8.11
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Cerebral malformation
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Genitourinary and/or/brain malformation syndrome, OMIM:618820
    Green PPP1R12A in Differences in sex development


    Level 2: Endocrinology
    Version 4.23
    Latest signed off version: v4.22 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Genitourinary and/or/brain malformation syndrome, 618820
    Amber PPP1R12A in Holoprosencephaly


    Level 2: Neurology
    Version 6.4
    Latest signed off version: v6.3 (12 Aug 2026)

    Component of the following Super Panels:

  • Cerebral malformation
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Genitourinary and/or/brain malformation syndrome, 618820
    Tags
    • watchlist
    Green PPP1R12A in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • disorder of sex development
    • holoprosencephaly
    • Intellectual disability
    • Genitourinary and/or brain malformation syndrome, OMIM:618820
    Green PPP1R12A in DDG2P


    Version 8.2
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PPP1R12A-related Holoprosencephaly Spectrum and Urogenital Malformations
    Green PPP1R12A in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Genitourinary and/or/brain malformation syndrome, 618820