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Epileptic encephalopathy

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 added as new Green gene in view of new evidence discovered as part of Intellectual Disability panel review
Created: 1 Mar 2018, 3:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 51 617339

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 51 617339
OMIM
154100
Clinvar variants
Variants in MDH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

1 Mar 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

MDH2 was added to Epileptic encephalopathy panel. Sources: Literature

1 Mar 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

MDH2 was created by Eleanor Williams