Inherited MMR deficiency (Lynch syndrome)
Gene: PMS2EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 34 panels
4 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 12:31 p.m. | Last Modified: 31 Jul 2019, 12:31 p.m.
Panel Version: 0.11
Rachel Robinson (Leeds Genetics Laboratory)
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
Clare Turnbull (Queen Mary University London)
Tumor Suppressor. Biallelic phenotype.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lynch Syndrome; CMMRD
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert List
- Phenotypes
-
- Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337
- Colorectal cancer, hereditary nonpolyposis, type 4, MONDO:0013699
- Lynch syndrome 1, MONDO:0007356
- OMIM
- 600259
- Clinvar variants
- Variants in PMS2
- Penetrance
- None
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PMS2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337; Colorectal cancer, hereditary nonpolyposis, type 4, MONDO:0013699; Lynch syndrome 1, MONDO:0007356
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: PMS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: PMS2 was added gene: PMS2 was added to Inherited MMR deficiency (Lynch syndrome). Sources: Expert List,Expert Review Green,NHS GMS Mode of inheritance for gene: PMS2 was set to