Fetal hydrops
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
1 review
Zornitza Stark (Australian Genomics)
Oedema/hydrops is a presenting feature antenatally.
Sources: Expert listCreated: 30 Dec 2019, 7:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neu-Laxova syndrome 1, MIM# 256520
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Neu-Laxova syndrome 1, MIM# 256520
- OMIM
- 606879
- Clinvar variants
- Variants in PHGDH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Cerebellar hypoplasia
- Clefting
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Skeletal dysplasia
- Ataxia and cerebellar anomalies - narrow panel
- Fetal hydrops
- Early onset or syndromic epilepsy
History Filter Activity
30 Dec 2019, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: PHGDH was added gene: PHGDH was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHGDH were set to 11895570; 11494295 Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1, MIM# 256520 Review for gene: PHGDH was set to GREEN gene: PHGDH was marked as current diagnostic