MSH2

mutS homolog 2
OMIM: 609309, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green MSH2 in Incidentalome Version 0.314	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 0.131	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red MSH2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Green MSH2 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 1, MIM# 120435
Green MSH2 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 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	review	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	review	Unknown	Sources NSW Health Pathology Expert Review Green
Green MSH2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	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	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 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 1, MIM# 120435
Green MSH2 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 2, MONDO:0030840 Mismatch repair cancer syndrome 2, MIM#619096
Green MSH2 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 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 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 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 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 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 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 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 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 1, MONDO:0007356 Mismatch repair cancer syndrome 2, MONDO:0030840 Lynch syndrome 1, MIM#120435 Mismatch repair cancer syndrome 2, MIM#619096