PMS2

PMS1 homolog 2, mismatch repair system component
OMIM: 600259, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green PMS2 in Incidentalome Version 0.314	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 0.131	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber PMS2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	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 0.166	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 1.115 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mismatch repair cancer syndrome, MIM# 276300
Green PMS2 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 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	review	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	review	Unknown	Sources NSW Health Pathology Expert Review Green
Amber PMS2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	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 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 4, MIM# 614337
Green PMS2 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 4, MONDO:0030843 Mismatch repair cancer syndrome 4, MIM#619101
Green PMS2 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 4, MONDO:0013699 Mismatch repair cancer syndrome 4, MONDO:0030843 Lynch syndrome 4, MIM#614337 Mismatch repair cancer syndrome 4, MIM#619101
Green PMS2 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 4, MONDO:0013699 Mismatch repair cancer syndrome 4, MONDO:0030843 Lynch syndrome 4, MIM#614337 Mismatch repair cancer syndrome 4, MIM#619101
Green PMS2 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 4, MONDO:0013699 Mismatch repair cancer syndrome 4, MONDO:0030843 Lynch syndrome 4, MIM#614337 Mismatch repair cancer syndrome 4, MIM#619101
Green PMS2 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 4, MONDO:0013699 Mismatch repair cancer syndrome 4, MONDO:0030843 Lynch syndrome 4, MIM#614337 Mismatch repair cancer syndrome 4, MIM#619101
Green PMS2 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 4, MONDO:0013699 Mismatch repair cancer syndrome 4, MONDO:0030843 Lynch syndrome 4, MIM#614337 Mismatch repair cancer syndrome 4, MIM#619101