PPM1D

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

7 panels

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

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.20

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

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 4.3
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 Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Red PPM1D in Fetal anomalies


Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

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


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    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
    Green PPM1D in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Jansen de Vries syndrome, 617450