Familial breast cancer

Gene: PPM1D

Red List (low evidence)

PPM1D (protein phosphatase, Mg2+/Mn2+ dependent 1D)
EnsemblGeneIds (GRCh38): ENSG00000170836
EnsemblGeneIds (GRCh37): ENSG00000170836
OMIM: 605100, Gene2Phenotype
PPM1D is in 6 panels

2 reviews

Paul Pharoah (University of Cambridge)

Red List (low evidence)

Clare Turnbull (Queen Mary University London)

Red List (low evidence)

marker of treatment rather than susceptibility
Created: 28 Apr 2017, 9:31 a.m.

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Breast cancer, 114480
OMIM
605100
Clinvar variants
Variants in PPM1D
Penetrance
Complete
Panels with this gene

History Filter Activity

27 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PPM1D was added to Familial breast cancerpanel. Sources: Radboud University Medical Center, Nijmegen