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Intellectual disability

Gene: MLH1

Red List (low evidence)

MLH1 (mutL homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000076242
EnsemblGeneIds (GRCh37): ENSG00000076242
OMIM: 120436, Gene2Phenotype
MLH1 is in 32 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Variants in MLH1 are also associated with Colorectal cancer, hereditary nonpolyposis, type 2 609310, Muir-Torre syndrome 158320
Created: 8 Mar 2018, 2:05 p.m.
Associated with phenotypes in OMIM and as a confirmed G2P association. At least one case of Mismatch repair cancer syndrome 276300 reported to include agenesis of the corpus callosum, gray matter heterotopia, interhemispheric cysts and psychomotor delay.
Reported as an ID candidate gene (Gilessen 2014 PMID 24896178).
Created: 8 Mar 2018, 1:45 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MLH1 was set to BIALLELIC, autosomal or pseudoautosomal

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MLH1 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MLH1 was created by ellenmcdonagh