This Panel is marked as Internal
Coarse facial features including Coffin-Siris-like disorders
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
1 review
alisdair mcneill (Sheffield childrens hospital)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- D-2-hydroxyglutaric aciduria
- OMIM
- 609186
- Clinvar variants
- Variants in D2HGDH
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Mitochondrial disorders
- DDG2P
- Likely inborn error of metabolism
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
History Filter Activity
14 Nov 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
29 Jan 2016, Gel status: 0
Created
Alice Gardham (North West Thames Genetics)D2HGDH was created by alicegardham
29 Jan 2016, Gel status: 0
Added New Source
Alice Gardham (North West Thames Genetics)D2HGDH was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Literature