This Panel is marked as Deleted
Leukodystrophy Victorian Clinical Genetics Services
Gene: PHGDH
PHGDH (phosphoglycerate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000092621
EnsemblGeneIds (GRCh37): ENSG00000092621
OMIM: 606879, Gene2Phenotype
PHGDH is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000092621
EnsemblGeneIds (GRCh37): ENSG00000092621
OMIM: 606879, Gene2Phenotype
PHGDH is in 14 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 606879
- Clinvar variants
- Variants in PHGDH
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Ataxia and cerebellar anomalies - narrow panel
- White matter disorders and cerebral calcification - narrow panel
- Skeletal dysplasia
- Fetal hydrops
- Intellectual disability
- Early onset or syndromic epilepsy
- Fetal anomalies
- Cerebellar hypoplasia
- Clefting
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- DDG2P
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)PHGDH was added to Leukodystrophy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)PHGDH was created by Sarah Leigh