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Additional findings health related - CNV analysis adult specific

Gene: MLH1

Green List (high evidence)

MLH1 (mutL homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000076242
EnsemblGeneIds (GRCh37): ENSG00000076242
OMIM: 120436, Gene2Phenotype
MLH1 is in 35 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bowel cancer predisposition
  • Adult only
  • Hereditary non-polyposis colorectal cancer
Transcripts
  • ENST00000231790.6
  • NM_000249.3
Tags
adult-onset
OMIM
120436
Clinvar variants
Variants in MLH1
Penetrance
None
Panels with this gene

History Filter Activity

20 Apr 2020, Gel status: 3

Set transcript, Added Tag

Eleanor Williams (Genomics England Curator)

Transcript for gene MLH1 was changed from None to ENST00000231790.6; NM_000249.3 Tag adult-onset tag was added to MLH1.

20 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: MLH1 was added gene: MLH1 was added to Additional findings health related adult additional CNVs. Sources: Expert Review Green,Expert list Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MLH1 were set to Bowel cancer predisposition; Adult only; Hereditary non-polyposis colorectal cancer