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Inborn errors of metabolism

Gene: MDH2

Green List (high evidence)

MDH2 (malate dehydrogenase 2)
EnsemblGeneIds (GRCh38): ENSG00000146701
EnsemblGeneIds (GRCh37): ENSG00000146701
OMIM: 154100, Gene2Phenotype
MDH2 is in 10 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

MDH2 association with Epileptic encephalopathy, early infantile, 51 reported in 3 unrelated cases (PMID: 27989324).

As recommended by internal clinical team new Green gene added in view of new evidence due to Intellectual Disability panel review

Gene relevant to panel as is a Krebs cycle enzyme.
Created: 1 Mar 2018, 3:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 51 617339

Publications

Details

History Filter Activity

24 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: MDH2 were changed from Epileptic encephalopathy, early infantile, 51 to Epileptic encephalopathy, early infantile, 51 617339

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: MDH2 was added gene: MDH2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDH2 were set to 27989324 Phenotypes for gene: MDH2 were set to Epileptic encephalopathy, early infantile, 51