Neurofibromatosis Type 1
Gene: PMS2
PMS2 (PMS1 homolog 2, mismatch repair system component)
EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 34 panels
EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 34 panels
1 review
Alice Gardham (Genomics England)
Mismatch repair cancer syndrome is caused by homozygous or compound heterozygous mutation in the mismatch repair genes MLH1 (120436), MSH2 (609309), MSH6 (600678), or PMS2 (600259). Heterozygous mutations in the MMR genes result in hereditary nonpolyposis colorectal cancerCreated: 2 Nov 2016, 9:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mismatch repair cancer syndrome, 276300
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Expert Review
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Mismatch repair cancer syndrome, 276300
- OMIM
- 600259
- Clinvar variants
- Variants in PMS2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Inherited MMR deficiency (Lynch syndrome)
- Intellectual disability
- 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
- 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
14 Nov 2016, Gel status: 4
panel promoted to version 1
Alice Gardham (Genomics England)Panel finalised 14th November 2016
2 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
2 Nov 2016, Gel status: 3
Added New Source
Alice Gardham (Genomics England)PMS2 was added to Neurofibromatosis Type 1panel. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert Review
2 Nov 2016, Gel status: 0
Created
Alice Gardham (Genomics England)PMS2 was created by agardham