Familial Tumours Syndromes of the central & peripheral Nervous system

Gene: MLH1

Green List (high evidence)

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

1 review

Ellen Thomas (Genomics England Curator)

Comment on list classification: Biallelic mutations can cause phenotype similar to NF1 with severe tumour predisposition.
Created: 15 Feb 2016, 12:53 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Brain, CNS, and PNS Cancer
OMIM
120436
Clinvar variants
Variants in MLH1
Penetrance
Complete
Panels with this gene

History Filter Activity

15 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for MLH1 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MLH1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Emory Genetics Laboratory

22 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

MLH1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Emory Genetics Laboratory