MLH1

mutL homolog 1
OMIM: 120436, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green MLH1 in Incidentalome Version 0.360	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 mismatch repair cancer syndrome 1 MONDO:0010159 Tags cancer
Green MLH1 in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.132	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red MLH1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	0 reviews	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Green MLH1 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 2, MIM# 609310
Red MLH1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Mismatch repair cancer syndrome, OMIM #276300 Muir-Torre syndrome, OMIM #158320
Green MLH1 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 2, MONDO:0012249 Mismatch repair cancer syndrome 1, MONDO:0010159 Lynch syndrome 2, MIM#609310 Mismatch repair cancer syndrome 1, MIM#276300
Red MLH1 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 MLH1 in Incidentalome_PREGEN_DRAFT Version 0.43	0 reviews	Unknown	Sources NSW Health Pathology Expert Review Green
Green MLH1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Mismatch repair cancer syndrome 1, MIM# 276300 Tags cancer treatable
Green MLH1 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 MLH1 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 2, MIM# 609310
Green MLH1 in Sarcoma soft tissue Level 2: Cancer Predisposition Version 1.0	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 1, MONDO:0010159 Mismatch repair cancer syndrome 1, MIM#276300
Green MLH1 in Pancreatic Cancer 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 Malignant pancreatic neoplasm, MONDO:0009831 Lynch syndrome 2, MONDO:0012249 Mismatch repair cancer syndrome 1, MONDO:0010159 Lynch syndrome 2, MIM#609310 Mismatch repair cancer syndrome 1, MIM#276300
Green MLH1 in Colorectal Cancer and Polyposis 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 Colorectal cancer, MONDO:0005575 Polyposis, MONDO:0000147 Lynch syndrome 2, MONDO:0012249 Mismatch repair cancer syndrome 1, MONDO:0010159 Lynch syndrome 2, MIM#609310 Mismatch repair cancer syndrome 1, MIM#276300
Green MLH1 in Prostate Cancer 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 Prostate cancer, MONDO:0008315 Lynch syndrome 2, MONDO:0012249 Mismatch repair cancer syndrome 1, MONDO:0010159 Lynch syndrome 2, MIM#609310 Mismatch repair cancer syndrome 1, MIM#276300
Green MLH1 in Endometrial Cancer 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 Endometrial cancer, MONDO:0011962 Lynch syndrome 2, MONDO:0012249 Mismatch repair cancer syndrome 1, MONDO:0010159 Lynch syndrome 2, MIM#609310 Mismatch repair cancer syndrome 1, MIM#276300
Green MLH1 in Ovarian Cancer 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 Ovarian cancer, MONDO:0008170 Lynch syndrome 2, MONDO:0012249 Mismatch repair cancer syndrome 1, MONDO:0010159 Lynch syndrome 2, MIM#609310 Mismatch repair cancer syndrome 1, MIM#276300