PMS2

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

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green PMS2 in Incidentalome


Version 0.314

review Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PMS2 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Amber PMS2 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.540

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mismatch repair cancer syndrome, MIM# 276300

Green PMS2 in Additional findings_Adult


Level 2: Screening
Version 0.166

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337

Amber PMS2 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.115

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Mismatch repair cancer syndrome, MIM# 276300

    Green PMS2 in Medulloblastoma


    Level 2: Cancer Predisposition
    Version 1.1

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Medulloblastoma, MONDO:0007959
    • Lynch syndrome 4, MONDO:0013699
    • Mismatch repair cancer syndrome 4, MONDO:0030843
    • Lynch syndrome 4, MIM#614337
    • Mismatch repair cancer syndrome 4, MIM#619101

    Red PMS2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Lynch syndrome

    Green PMS2 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Amber PMS2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BabySeq Category C gene
    Phenotypes
    • Mismatch repair cancer syndrome 4, MIM# 619101
    Tags
    • cancer
    • treatable
    • technically challenging

    Green PMS2 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337

    Green PMS2 in Sarcoma soft tissue


    Level 2: Cancer Predisposition
    Version 1.0

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Soft tissue sarcoma, MONDO:0018078
    • Sarcoma, MONDO:0005089
    • Mismatch repair cancer syndrome 4, MONDO:0030843
    • Mismatch repair cancer syndrome 4, MIM#619101

    Green PMS2 in Pancreatic Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Malignant pancreatic neoplasm, MONDO:0009831
    • Lynch syndrome 4, MONDO:0013699
    • Mismatch repair cancer syndrome 4, MONDO:0030843
    • Lynch syndrome 4, MIM#614337
    • Mismatch repair cancer syndrome 4, MIM#619101

    Green PMS2 in Colorectal Cancer and Polyposis


    Level 2: Cancer Predisposition
    Version 1.1

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Colorectal cancer, MONDO:0005575
    • Polyposis, MONDO:0000147
    • Lynch syndrome 4, MONDO:0013699
    • Mismatch repair cancer syndrome 4, MONDO:0030843
    • Lynch syndrome 4, MIM#614337
    • Mismatch repair cancer syndrome 4, MIM#619101

    Green PMS2 in Prostate Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Prostate cancer, MONDO:0008315
    • Lynch syndrome 4, MONDO:0013699
    • Mismatch repair cancer syndrome 4, MONDO:0030843
    • Lynch syndrome 4, MIM#614337
    • Mismatch repair cancer syndrome 4, MIM#619101

    Green PMS2 in Endometrial Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Endometrial cancer, MONDO:0011962
    • Lynch syndrome 4, MONDO:0013699
    • Mismatch repair cancer syndrome 4, MONDO:0030843
    • Lynch syndrome 4, MIM#614337
    • Mismatch repair cancer syndrome 4, MIM#619101

    Green PMS2 in Ovarian Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Ovarian cancer, MONDO:0008170
    • Lynch syndrome 4, MONDO:0013699
    • Mismatch repair cancer syndrome 4, MONDO:0030843
    • Lynch syndrome 4, MIM#614337
    • Mismatch repair cancer syndrome 4, MIM#619101