Aminoacidopathy
Gene: PHGDH

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Established gene-disease association. >10 unrelated probands reported with an inborn error of serine deficiency. LoF is the mechanism of disease (PMID: 37347880).

Classified as Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020
https://search.clinicalgenome.org/CCID:005786
Sources: ClinGen
Created: 9 Jul 2024, 1:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurometabolic disorder due to serine deficiency MONDO:0018162

Publications

Created: 9 Jul 2024, 1:35 a.m.

Panel version: 1.66

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

neurometabolic disorder due to serine deficiency MONDO:0018162

OMIM

606879

Clinvar variants

Variants in PHGDH

Penetrance

None

Publications

Panels with this gene

History Filter Activity

14 Jul 2024, 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).

9 Jul 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: PHGDH was added gene: PHGDH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHGDH were set to 37347880; 19235232; 24836451; 28440900; 22393170; 25913727 Phenotypes for gene: PHGDH were set to neurometabolic disorder due to serine deficiency MONDO:0018162 Review for gene: PHGDH was set to GREEN

Aminoacidopathy Gene: PHGDH