1. Genes and Genomic Entities
  2. PMS2

PMS2

PMS1 homolog 2, mismatch repair system component
OMIM: 600259, Gene2Phenotype

34 panels

Panel Reviews Mode of inheritance Details
34 panels
Red PMS2 in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.28

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer
Green PMS2 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.19

review 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
Green PMS2 in Brain cancer pertinent cancer susceptibility


Level 2: Cancer susceptibility
Version 1.5
Latest signed off version: v1.0 (29 Sep 2021)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Adult Glioma
Green PMS2 in Bladder cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Green PMS2 in Colorectal cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Colorectal cancer
Green PMS2 in Endometrial cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Endometrial carcinoma
Red PMS2 in Ovarian cancer pertinent cancer susceptibility


Level 2: Cancer susceptibility
Version 2.4
Latest signed off version: v2.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Ovarian cancer
Green PMS2 in Prostate cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Green PMS2 in Renal cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Green PMS2 in Upper gastrointestinal cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hepatopancreatobiliary
  • Upper Gastrointestinal
Green PMS2 in Familial Tumours Syndromes of the central & peripheral Nervous system

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Brain, CNS, and PNS Cancer
Green PMS2 in Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.33

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert Review
  • Emory Genetics Laboratory
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Green PMS2 in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.42

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lynch Syndrome
  • CMMRD
Green PMS2 in COVID-19 research


Level 2: Viral research
Version 1.147

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Recurrent infections, cafe-au-lait spots, lymphoma, colorectal carcinoma, brain tumors
  • Post-Meiotic Segregation 2 (PMS2) deficiency
  • Mismatch repair cancer syndrome 276300
  • Combined immunodeficiencies with associated or syndromic features
  • CSR defects and Hyper IgM (HIGM) syndromes
  • Recurrent infections, caf-au-lait spots, lymphoma, colorectal carcinoma, brain tumors
Green PMS2 in Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.6

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Amber PMS2 in Inherited ovarian cancer (without breast cancer)


Level 2: Inherited cancer
Version 4.9
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Amber
  • Emory Genetics Laboratory
Phenotypes
  • Ovarian cancer, MONDO:0008170
Green PMS2 in GI tract tumours

Level 3: GI tract
Level 2: Tumour syndromes
Version 1.27

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert List
  • Other
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 4 614337
  • Mismatch repair cancer syndrome 276300 AR
Green PMS2 in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Expert list
Phenotypes
  • CMMRD
  • 276300
  • Lynch Syndrome
Green PMS2 in Inherited MMR deficiency (Lynch syndrome)


Level 2: Inherited cancer
Version 1.13
Latest signed off version: v1.2 (4 Mar 2020)

review 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
No list PMS2 in Inherited renal cancer


Level 2: Inherited cancer
Version 1.28
Latest signed off version: v1.2 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Expert List
  • Expert list
Tags
  • curated_removed
Green PMS2 in Inherited polyposis and early onset colorectal cancer - germline testing


Level 2: Inherited cancer
Version 3.11
Latest signed off version: v3.0 (7 Aug 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert List
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337
  • Mismatch repair cancer syndrome 4, OMIM:619101
Amber PMS2 in Inherited pancreatic cancer


Level 2: Inherited cancer
Version 3.2
Latest signed off version: v3.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert List
Phenotypes
  • Malignant pancreatic neoplasm, MONDO:0009831
Green PMS2 in Pigmentary skin disorders


Level 2: Dermatology
Version 4.13
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MISMATCH REPAIR CANCER SYNDROME, 276300
Amber PMS2 in Endocrine neoplasia


Level 2: Endocrinology
Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review
Red PMS2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.85
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Recurrent infections, caf-au-lait spots, lymphoma, colorectal carcinoma, brain tumors
  • Mismatch repair cancer syndrome 276300
  • Post-Meiotic Segregation 2 (PMS2) deficiency
  • CSR defects and Hyper IgM (HIGM) syndromes
  • Recurrent infections, cafe-au-lait spots, lymphoma, colorectal carcinoma, brain tumors
  • Combined immunodeficiencies with associated or syndromic features
Amber PMS2 in Multiple monogenic benign skin tumours


Level 2: Dermatology
Version 2.5
Latest signed off version: v2.0 (30 Nov 2022)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Muir-Torre syndrome, MONDO:0008018
Amber PMS2 in Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.26

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Mismatch repair cancer syndrome, 276300
Green PMS2 in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.30

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lynch Syndrome
  • CMMRD
Green PMS2 in Adult solid tumours cancer susceptibility


Level 2: Cancer susceptibility
Version 2.35
Latest signed off version: v2.2 (18 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Lynch Syndrome
  • CMMRD
Green PMS2 in Haematological malignancies cancer susceptibility


Level 2: Cancer susceptibility
Version 4.40
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: Familial cancer syndrome
  • Constitutional mismatch repair deficiency syndrome (Lynch syndrome)
  • Lymphoma, ALL, MDS, AML
  • Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other
Amber PMS2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.169
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MISMATCH REPAIR CANCER SYNDROME
  • Mismatch repair cancer syndrome 4, OMIM:619101
Green PMS2 in DDG2P


Version 6.438
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MISMATCH REPAIR CANCER SYNDROME 276300
    Red PMS2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.330
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Mismatch repair cancer syndrome, 276300
    • Colorectal cancer, hereditary nonpolyposis, type 4, 614337
    Amber PMS2 in Sarcoma susceptibility


    Level 2: Cancer susceptibility
    Version 1.82
    Latest signed off version: v1.2 (18 Feb 2020)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Literature
    • Expert Review Amber
    Phenotypes
    • Mismatch repair cancer syndrome 4, OMIM:619101
    • Rhabdomyosarcoma (disease), MONDO:0005212