MLH1

mutL homolog 1
OMIM: 120436, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green MLH1 in Incidentalome Version 0.301	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 0.131	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red MLH1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Green MLH1 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 2, MIM# 609310
Red MLH1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	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
Red MLH1 in CGC_86 Version 0.2	review	Other	Sources CGC_86 Phenotypes Lynch syndrome Hereditary nonpolyposis colon cancer Turcot syndrome
Red MLH1 in NCGC Version 0.2	review	Other	Sources NCGC Phenotypes Lynch syndrome Hereditary nonpolyposis colon cancer Turcot syndrome
Red MLH1 in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Hereditary nonpolyposis colon cancer Turcot syndrome Lynch syndrome
Red MLH1 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 MLH1 in Incidentalome_PREGEN_DRAFT Version 0.43	review	Unknown	Sources NSW Health Pathology Expert Review Green
Green MLH1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	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	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 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 2, MIM# 609310