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 1.13

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 2.3
Signed off v.2.2 on 4 Mar 2020

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Breast cancer, 114480

Red PPM1D in Autism


Version 0.15

review Not set
Sources
  • Expert Review Red
  • SFARI

Red PPM1D in Fetal anomalies


Version 1.73
Signed off v.1.2 on 17 Feb 2020

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

Green PPM1D in DDG2P


Version 2.5
Signed off v.2.2 on 13 Feb 2020

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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.66
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.6

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