MSH2:Ensemblv90

mutS homolog 2
OMIM: 609309, ClinGen, DECIPHER

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green MSH2 in Incidentalome


Version 0.370

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

Green MSH2 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.132

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

Red MSH2 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.578

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

Green MSH2 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 1, MIM# 120435

Red MSH2 in CGC_86


Version 0.3

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

Red MSH2 in NCGC


Version 0.3

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

Red MSH2 in TCGA_PANCAN_2018


Version 0.3

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

Green MSH2 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 1, MONDO:0007356
  • Mismatch repair cancer syndrome 2, MONDO:0030840
  • Lynch syndrome 1, MIM#120435
  • Mismatch repair cancer syndrome 2, MIM#619096

Red MSH2 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 MSH2 in Incidentalome_PREGEN_DRAFT


Version 0.43

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

Green MSH2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Mismatch repair cancer syndrome 2, MIM# 619096
Tags
  • cancer
  • treatable

Green MSH2 in Facial papules


Level 2: Dermatological disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lynch syndrome MONDO:0005835
  • Muir-Torre syndrome MONDO:0008018

Green MSH2 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 1, MIM# 120435

Green MSH2 in Incidentalome


Version 1.0

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

Green MSH2 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.0

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

Green MSH2 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 1, MIM# 120435

Green MSH2 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 1, MONDO:0007356
  • Mismatch repair cancer syndrome 2, MONDO:0030840
  • Lynch syndrome 1, MIM#120435
  • Mismatch repair cancer syndrome 2, MIM#619096

Green MSH2 in Incidentalome_PREGEN_DRAFT


Version 1.0

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

Green MSH2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Mismatch repair cancer syndrome 2, MIM# 619096
Tags
  • cancer
  • treatable

Green MSH2 in Facial papules


Level 2: Dermatological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lynch syndrome MONDO:0005835
  • Muir-Torre syndrome MONDO:0008018

Green MSH2 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 1, MIM# 120435