MLH1

mutL homolog 1
OMIM: 120436, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green MLH1 in Incidentalome


Version 0.314

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 0.540

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 1.83

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

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

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 1.116

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

Green MLH1 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 1, MONDO:0010159
  • Mismatch repair cancer syndrome 1, MIM#276300

Green MLH1 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 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

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

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

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

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