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Fetal anomalies

Gene: MLH1

Red List (low evidence)

MLH1 (mutL homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000076242
EnsemblGeneIds (GRCh37): ENSG00000076242
OMIM: 120436, Gene2Phenotype
MLH1 is in 34 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
Comment on mode of inheritance: The MOI in the Additional PAGE list was recorded as both 'Monoallelic' and 'Biallelic' with a Confirmed rating for both. Phenotype was changed to Biallelic only following clinical review.
Created: 24 Mar 2019, 5:29 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance only- phenotype presents in childhood, but very rarely there is a chance of tumours presenting very early as fetal adrenal/renal masses. Action taken: Changed Mode of inheritance from 'both monoallelic and biallelic' to 'biallelic' only.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Mismatch repair cancer syndrome 276300
OMIM
120436
Clinvar variants
Variants in MLH1
Penetrance
None
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to MLH1. Rating Changed from Green List (high evidence) to Red List (low evidence)

24 Mar 2019, Gel status: 4

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

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

24 Mar 2019, Gel status: 4

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene MLH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: MLH1 was added gene: MLH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: MLH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MLH1 were set to Mismatch repair cancer syndrome 276300