Haematological malignancies for rare disease
Gene: PMS2EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 34 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: This is relevant to haematological malignancies in biallelic form.Created: 22 Aug 2018, 8:03 a.m.
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Curated sources
- Expert Review Green
- Phenotypes
-
- Class: Familial cancer syndrome
- Constitutional mismatch repair deficiency syndrome
- Lymphoma, ALL, MDS, AML
- Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other
- OMIM
- 600259
- Clinvar variants
- Variants in PMS2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Inherited MMR deficiency (Lynch syndrome)
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Endometrial cancer pertinent cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Brain cancer pertinent cancer susceptibility
- Haematological malignancies cancer susceptibility
- Inherited pancreatic cancer
- Pigmentary skin disorders
- COVID-19 research
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Bladder cancer pertinent cancer susceptibility
- Childhood solid tumours cancer susceptibility
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Upper gastrointestinal cancer pertinent cancer susceptibility
- Sarcoma cancer susceptibility
- Inherited renal cancer
- Intellectual disability
- Prostate cancer pertinent cancer susceptibility
- Neurofibromatosis Type 1
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
History Filter Activity
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: PMS2 were set to Class: Familial cancer syndrome; Constitutional mismatch repair deficiency syndrome; Lymphoma, ALL, MDS, AML; Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: PMS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)PMS2 was added to Haematological malignancies for rare disease panel. Sources: Expert Review Green,Curated sources
Created
Ellen McDonagh (Genomics England Curator)PMS2 was created by Ellen McDonagh