This Panel is marked as Retired
Epileptic encephalopathy
Gene: MDH2
MDH2 (malate dehydrogenase 2)
EnsemblGeneIds (GRCh38): ENSG00000146701
EnsemblGeneIds (GRCh37): ENSG00000146701
OMIM: 154100, Gene2Phenotype
MDH2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000146701
EnsemblGeneIds (GRCh37): ENSG00000146701
OMIM: 154100, Gene2Phenotype
MDH2 is in 10 panels
1 review
Eleanor Williams (Genomics England Curator)
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 reviewCreated: 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
-
- Inherited phaeochromocytoma and paraganglioma
- Likely inborn error of metabolism
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Fetal anomalies
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
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