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  3. PHGDH
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Hydrops fetalis

Gene: PHGDH

Green List (high evidence)
PHGDH (phosphoglycerate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000092621
EnsemblGeneIds (GRCh37): ENSG00000092621
OMIM: 606879, Gene2Phenotype
PHGDH is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Oedema/hydrops is a presenting feature antenatally.
Sources: Expert list
Created: 30 Dec 2019, 2:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neu-Laxova syndrome 1, MIM# 256520

Publications

Created: 30 Dec 2019, 2:22 a.m.

Panel version: 0.28

History Filter Activity

30 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phgdh has been classified as Green List (High Evidence).

30 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phgdh has been classified as Green List (High Evidence).

30 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PHGDH was added gene: PHGDH was added to Hydrops fetalis_VCGS. 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