Endocrine neoplasms

Gene: MLH1

Amber List (moderate evidence)

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

1 review

Ivone Leong (Genomics England Curator)

I don't know

This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene has been given an Amber rating and will reviewed by GMS before Green status is given.
Sources: Expert list
Created: 16 Feb 2021, 10:21 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Tags
Q2_21_rating Q2_21_phenotype Q2_21_NHS_review
OMIM
120436
Clinvar variants
Variants in MLH1
Penetrance
None
Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 2

Added Tag, Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: MLH1. Tag Q2_21_NHS_review tag was added to gene: MLH1.

16 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: mlh1 has been classified as Amber List (Moderate Evidence).

16 Feb 2021, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: MLH1 was added gene: MLH1 was added to Endocrine neoplasms. Sources: Expert list Q2_21_phenotype tags were added to gene: MLH1. Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: MLH1 was set to AMBER