PanelApp (test)
  1. Genes and Genomic Entities
  2. PMS2:Ensemblv90

PMS2:Ensemblv90

PMS1 homolog 2, mismatch repair system component
OMIM: 600259, ClinGen, DECIPHER

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green PMS2 in Incidentalome


Version 0.370

1 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 0.132

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Amber PMS2 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.578

1 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 1.130

1 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 1.138

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

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

    Red PMS2 in CGC_86


    Version 0.3

    		0 reviews Other
    Sources
    • CGC_86
    Phenotypes
    • Lynch syndrome
    • Hereditary nonpolyposis colon cancer
    • Turcot syndrome

    Red PMS2 in NCGC


    Version 0.3

    		0 reviews Other
    Sources
    • NCGC
    Phenotypes
    • Lynch syndrome
    • Hereditary nonpolyposis colon cancer
    • Turcot syndrome

    Red PMS2 in TCGA_PANCAN_2018


    Version 0.3

    		0 reviews Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Hereditary nonpolyposis colon cancer
    • Turcot syndrome
    • Lynch syndrome

    Green PMS2 in Medulloblastoma


    Level 2: Cancer Predisposition
    Version 1.1

    		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

    		0 reviews 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

    		0 reviews Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Amber PMS2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		1 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


    Level 2: Screening
    Version 0.20

    		0 reviews 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 Incidentalome


    Version 1.0

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

    Green PMS2 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 1.0

    		0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green PMS2 in Additional findings_Adult


    Level 2: Screening
    Version 2.0

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

    Amber PMS2 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 2.0

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

    Green PMS2 in Medulloblastoma


    Level 2: Cancer Predisposition
    Version 2.0

    		1 review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review
    • Expert Review Green
    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

    Amber PMS2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.0

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

    Green PMS2 in Transplant Co-Morbidity


    Level 2: Screening
    Version 1.0

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