Possible mitochondrial disorder - nuclear genes
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
2 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 51, 617339
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 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
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert Review Green
- Literature
- Phenotypes
-
- Epileptic encephalopathy, early infantile, 51, 617339
- OMIM
- 154100
- Clinvar variants
- Variants in MDH2
- Penetrance
- None
- Panels with this gene
-
- Inherited phaeochromocytoma and paraganglioma
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Fetal anomalies
- DDG2P
- Early onset or syndromic epilepsy
- Mitochondrial disorders
History Filter Activity
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: MDH2 was added gene: MDH2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MDH2 were set to Epileptic encephalopathy, early infantile, 51, 617339