MSH6

mutS homolog 6
OMIM: 600678, Gene2Phenotype

39 panels

Panel Reviews Mode of inheritance Details
39 panels

Red MSH6 in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.14

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer

Red MSH6 in Familial prostate cancer


Version 1.1

review Unknown
Sources
  • Literature

Red MSH6 in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.5

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Familial Non-medullary Thyroid Cancer

Green MSH6 in Genodermatoses with malignancies

Level 3: Skin
Level 2: Tumour syndromes
Version 1.6

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Muir-Torre syndrome

Green MSH6 in Additional findings health related


Version 0.110

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Bowel cancer predisposition
  • Hereditary non-polyposis colorectal cancer
  • Adult only
Tags
  • adult-onset

Green MSH6 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.7

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Curated sources
  • Expert Review Green
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

Green MSH6 in Brain cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.2
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 MSH6 in Bladder 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 list
  • Expert Review Green

Green MSH6 in Colorectal cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Colorectal cancer

Green MSH6 in Endometrial cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Endometrial carcinoma

Green MSH6 in Ovarian cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.5
Latest signed off version: v1.3 (29 Sep 2021)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ovarian cancer

Green MSH6 in Prostate 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 list
  • Expert Review Green

Green MSH6 in Renal 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 list
  • Expert Review Green

Green MSH6 in Upper gastrointestinal cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hepatopancreatobiliary
  • Upper Gastrointestinal

Green MSH6 in Familial Tumours Syndromes of the central & peripheral Nervous system

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Brain, CNS, and PNS Cancer

Green MSH6 in Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.26

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review
Phenotypes
  • Mismatch repair cancer syndrome, 276300

Green MSH6 in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.25

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lynch Syndrome
  • CMMRD

Green MSH6 in COVID-19 research


Level 2: Viral research
Version 1.80

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • GRID V2.0
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • GRID V2.0
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 5 614350
  • Endometrial cancer, familial 608089
  • Family or personal history of cancer
  • Predominantly Antibody Deficiencies
  • Mismatch repair cancer syndrome 276300

Green MSH6 in Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.4

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mismatch repair cancer syndrome, 276300

Green MSH6 in Inherited ovarian cancer (without breast cancer)

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 2.21
Latest signed off version: v2.2 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Ovarian cancer, MONDO:0008170

Green MSH6 in GI tract tumours

Level 3: GI tract
Level 2: Tumour syndromes
Version 1.18

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert List
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 5 614350 AD
  • Endometrial cancer, familial 608089
  • Mismatch repair cancer syndrome 276300 AR

Green MSH6 in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.23
Latest signed off version: v2.5 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Expert list
Phenotypes
  • CMMRD
  • 276300
  • Lynch Syndrome

Green MSH6 in Inherited MMR deficiency (Lynch syndrome)


Version 1.9
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 5, OMIM:614350
  • Colorectal cancer, hereditary nonpolyposis, type 5, MONDO:0013710
  • Lynch syndrome 1, MONDO:0007356

No list MSH6 in Inherited renal cancer


Version 1.21
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 MSH6 in Inherited polyposis


Version 1.24
Latest signed off version: v1.2 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert List
Phenotypes
  • Mismatch repair cancer syndrome, OMIM:276300
  • Colorectal cancer, hereditary nonpolyposis, type 5, OMIM:614350
  • Endometrial cancer, familial, OMIM:608089

Amber MSH6 in Inherited pancreatic cancer


Version 1.18
Latest signed off version: v1.2 (4 Mar 2020)

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

Green MSH6 in Pigmentary skin disorders


Version 1.16
Latest signed off version: v1.4 (15 Oct 2020)

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

Amber MSH6 in Endocrine neoplasms


Version 1.23
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Tags
  • Q2_21_phenotype
  • Q2_21_rating
  • Q2_21_NHS_review

Red MSH6 in Primary immunodeficiency


Version 2.478
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Red
  • IUIS Classification February 2018
  • GRID V2.0
Phenotypes
  • Family or personal history of cancer
  • Mismatch repair cancer syndrome 276300
  • Endometrial cancer, familial 608089
  • Predominantly Antibody Deficiencies
  • Colorectal cancer, hereditary nonpolyposis, type 5 614350

Amber MSH6 in Multiple monogenic benign skin tumours


Version 1.12
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Muir-Torre syndrome, MONDO:0008018

Amber MSH6 in Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.20

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Mismatch repair cancer syndrome, 276300

Green MSH6 in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.15

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lynch Syndrome
  • CMMRD

Green MSH6 in Adult solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.14
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 MSH6 in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.21
Latest signed off version: v2.2 (18 Feb 2020)

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

Red MSH6 in Fetal anomalies


Version 1.733
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Mismatch repair cancer syndrome 276300

Amber MSH6 in Sarcoma susceptibility


Version 1.69
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 3, OMIM:619097
  • Rhabdomyosarcoma (disease), MONDO:0005212

Green MSH6 in Severe Paediatric Disorders


Version 1.84

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Mismatch repair cancer syndrome, 276300
  • Colorectal cancer, hereditary nonpolyposis, type 5, 614350

Green MSH6 in Additional findings health related - adult specific


Version 1.0

Component of the following Super Panels:

  • Additional findings health related - adults
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Bowel cancer predisposition
    • Hereditary non-polyposis colorectal cancer
    • Adult only
    Tags
    • adult-onset

    Green MSH6 in Additional findings health related - CNV analysis adult specific


    Version 1.0

    Component of the following Super Panels:

  • Additional findings health related - CNV analysis adults
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Other
    • Expert Review Green
    Phenotypes
    • Bowel cancer predisposition
    • Adult only
    • Hereditary non-polyposis colorectal cancer
    Tags
    • adult-onset