Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: MDH2

Green List (high evidence)

MDH2 (malate dehydrogenase 2)
EnsemblGeneIds (GRCh38): ENSG00000146701
EnsemblGeneIds (GRCh37): ENSG00000146701
OMIM: 154100, Gene2Phenotype
MDH2 is in 9 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR EIEE51 - severe neurodevelopmental disorder characterised by onset of intractable seizures and hypotonia in first few days/weeks of life. Ait-El-Mkadem et al, 2017 - 3 unrelated boys two patients aged 5 and 12 years of age and third died at 1.5 years. ll patients had refractory epilepsy with generalised and myocloinc seizures. Compuound het variants identified in all 3. Functional studies from 2 patients showed a loss of MDH2 protein and almsot undetectable MDH2 enzymatic activity which could be restored by complementation with wt MDH2. 3 cases and functional work.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 617339

Publications

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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 51
OMIM
154100
Clinvar variants
Variants in MDH2
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to MDH2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MDH2.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Eleanor Williams: MDH2 association with Epilepti

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to MDH2. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

MDH2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Literature

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

MDH2 was created by Sarah Leigh