This Panel is marked as Internal
Intellectual disability update Jan 2018
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
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient cases, appropriate phenotypeCreated: 5 Mar 2018, 12:10 p.m.
Eleanor Williams (Genomics England Curator)
Comment on list classification: MDH2 association with Epileptic encephalopathy, early infantile, 51 reported in 3 unrelated cases (PMID: 27989324). Psychomotor delay appears to be from early on and not progressive.Created: 1 Mar 2018, 3:07 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
- 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
5 Mar 2018, Gel status: 3
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Mar 2018, Gel status: 3
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for MDH2 was changed from to BIALLELIC, autosomal or pseudoautosomal
1 Mar 2018, Gel status: 3
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for MDH2 were set to Epileptic encephalopathy, early infantile, 51 617339
1 Mar 2018, Gel status: 3
Set publications
Eleanor Williams (Genomics England Curator)Publications for MDH2 were set to 27989324
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).
18 Dec 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)MDH2 was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber
18 Dec 2017, Gel status: 2
Created
Ellen McDonagh (Genomics England Curator)MDH2 was created by Ellen McDonagh