1. Genes and Genomic Entities
  2. PPM1D

PPM1D

protein phosphatase, Mg2+/Mn2+ dependent 1D
OMIM: 605100, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red PPM1D in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.28

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Breast cancer, 114480
Red PPM1D in Inherited ovarian cancer (without breast cancer)


Level 2: Inherited cancer
Version 4.9
Latest signed off version: v4.0 (22 Mar 2023)

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Breast cancer, 114480
Red PPM1D in Fetal anomalies


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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PPM1D syndrome
Green PPM1D in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PPM1D syndrome
    Green PPM1D in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, 617450
    • IDDGIP