White matter disorders and cerebral calcification - narrow panel
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Phosphoglycerate dehydrogenase deficiency, MIM#601815
- OMIM
- 606879
- Clinvar variants
- Variants in PHGDH
- Penetrance
- None
- Panels with this gene
-
- Skeletal dysplasia
- Cerebellar hypoplasia
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Clefting
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Inherited white matter disorders
- Fetal hydrops
- Fetal anomalies
History Filter Activity
8 Jan 2019, Gel status: 1
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: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PHGDH was added gene: PHGDH was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHGDH were set to Phosphoglycerate dehydrogenase deficiency, MIM#601815