This Panel is marked as Retired
Multiple Tumours
Gene: PPM1D
PPM1D (protein phosphatase, Mg2+/Mn2+ dependent 1D)
EnsemblGeneIds (GRCh38): ENSG00000170836
EnsemblGeneIds (GRCh37): ENSG00000170836
OMIM: 605100, Gene2Phenotype
PPM1D is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000170836
EnsemblGeneIds (GRCh37): ENSG00000170836
OMIM: 605100, Gene2Phenotype
PPM1D is in 5 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: On the UKGTN Hereditary Cancer and Fanconi Anaemia 94 gene panel for Breast cancer. Tagged with 'somatic' due to information provided on the UKGTN panel.Created: 18 Apr 2017, 2:16 p.m.
Mode of inheritance on TruSight panel: Not inherited. Pathogenic mutations from TruSight panel: Inactivating mosaic mutationsCreated: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- Other - please specify in evaluation comments
- Sources
-
- Expert Review Amber
- UKGTN
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Breast cancer
- Ovarian cancer
- Tags
- OMIM
- 605100
- Clinvar variants
- Variants in PPM1D
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
18 Apr 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
18 Apr 2017, Gel status: 1
Upload gene information
Ellen McDonagh (Genomics England Curator)PPM1D was added to Multiple Tumourspanel. Sources: UKGTN
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PPM1D was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PPM1D was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)