PMS2

PMS1 homolog 2, mismatch repair system component
OMIM: 600259, ClinGen, DECIPHER

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green PMS2 in Incidentalome Version 1.0	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Victorian Clinical Genetics Services Phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337 Mismatch repair cancer syndrome 4, MIM# 619101
Green PMS2 in Cancer Predisposition_Paediatric Level 2: Cancer Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber PMS2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 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 2.0	1 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 2.0	1 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 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 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 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Lynch syndrome
Green PMS2 in Incidentalome_PREGEN_DRAFT Version 1.0	0 reviews	Unknown	Sources NSW Health Pathology Expert Review Green
Amber PMS2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BabySeq Category C gene Phenotypes Mismatch repair cancer syndrome 4, MIM# 619101 Tags treatable technically challenging cancer
Green PMS2 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 4, MIM# 614337
Green PMS2 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 4, MONDO:0030843 Mismatch repair cancer syndrome 4, MIM#619101
Green PMS2 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 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 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 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 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 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 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 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 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 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 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