MSH6

mutS homolog 6
OMIM: 600678, ClinGen, DECIPHER

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green MSH6 in Incidentalome


Version 1.0

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

Green MSH6 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.0

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

Red MSH6 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Green MSH6 in Additional findings_Adult


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 5, MIM# 614350

Red MSH6 in Predominantly Antibody Deficiency


Level 2: Immunological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Mismatch repair cancer syndrome 3 MIM#619097
  • constitutional mismatch repair deficiency
  • immunodeficiency

Red MSH6 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350
  • Mismatch repair cancer syndrome, OMIM #276300

Green MSH6 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 Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Medulloblastoma, MONDO:0007959
  • Lynch syndrome 5, MONDO:0013710
  • Mismatch repair cancer syndrome 3, MONDO:0030841
  • Lynch syndrome 5, MIM#614350
  • Mismatch repair cancer syndrome 3, MIM#619097

Red MSH6 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

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

Green MSH6 in Incidentalome_PREGEN_DRAFT


Version 1.0

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

Green MSH6 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Mismatch repair cancer syndrome 3, MIM# 619097
Tags
  • treatable
  • cancer

Green MSH6 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 5, MIM# 614350

Green MSH6 in Sarcoma soft tissue


Level 2: Cancer Predisposition
Version 2.0

1 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 3, MONDO:0030841
  • Mismatch repair cancer syndrome 3, MIM#619097

Green MSH6 in Pancreatic Cancer


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 Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Malignant pancreatic neoplasm, MONDO:0009831
  • Lynch syndrome 5, MONDO:0013710
  • Mismatch repair cancer syndrome 3, MONDO:0030841
  • Lynch syndrome 5, MIM#614350
  • Mismatch repair cancer syndrome 3, MIM#619097

Green MSH6 in Colorectal Cancer and Polyposis


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 Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Colorectal cancer, MONDO:0005575
  • Polyposis, MONDO:0000147
  • Lynch syndrome 5, MONDO:0013710
  • Mismatch repair cancer syndrome 3, MONDO:0030841
  • Lynch syndrome 5, MIM#614350
  • Mismatch repair cancer syndrome 3, MIM#619097

Green MSH6 in Prostate Cancer


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 Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Prostate cancer, MONDO:0008315
  • Lynch syndrome 5, MONDO:0013710
  • Mismatch repair cancer syndrome 3, MONDO:0030841
  • Lynch syndrome 5, MIM#614350
  • Mismatch repair cancer syndrome 3, MIM#619097

Green MSH6 in Endometrial Cancer


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 Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Endometrial cancer, MONDO:0011962
  • Lynch syndrome 5, MONDO:0013710
  • Mismatch repair cancer syndrome 3, MONDO:0030841
  • Lynch syndrome 5, MIM#614350
  • Mismatch repair cancer syndrome 3, MIM#619097

Green MSH6 in Ovarian Cancer


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 Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Ovarian cancer, MONDO:0008170
  • Lynch syndrome 5, MONDO:0013710
  • Mismatch repair cancer syndrome 3, MONDO:0030841
  • Lynch syndrome 5, MIM#614350
  • Mismatch repair cancer syndrome 3, MIM#619097

Red MSH6 in Breast Cancer


Level 2: Cancer Predisposition
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Hereditary breast carcinoma, MONDO:0016419
Tags
  • disputed