White matter disorders and cerebral calcification - childhood onset
Gene: D2HGDH
D2HGDH (D-2-hydroxyglutarate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000180902
EnsemblGeneIds (GRCh37): ENSG00000180902
OMIM: 609186, Gene2Phenotype
D2HGDH is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000180902
EnsemblGeneIds (GRCh37): ENSG00000180902
OMIM: 609186, Gene2Phenotype
D2HGDH is in 11 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- L2-Hydroxyglutaric aciduria
- OMIM
- 609186
- Clinvar variants
- Variants in D2HGDH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Possible mitochondrial disorder, nuclear genes
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Undiagnosed metabolic disorders
- DDG2P
- Inherited white matter disorders
- Early onset or syndromic epilepsy
- Fetal anomalies
- Mitochondrial disorders
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
History Filter Activity
8 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: D2HGDH was added gene: D2HGDH was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: D2HGDH were set to 25655951 Phenotypes for gene: D2HGDH were set to L2-Hydroxyglutaric aciduria