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Inborn errors of metabolism

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

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for both phenotypes. At least 6 variants reported in 6 unrelated cases of Phosphoglycerate dehydrogenase deficiency 601815 and 4 variants reported in 4 unrelated cases of Neu-Laxova syndrome 1 256520.
Created: 19 Aug 2019, 3:16 p.m. | Last Modified: 19 Aug 2019, 3:16 p.m.
Panel Version: 1.226
Comment on phenotypes: Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism)
Created: 19 Aug 2019, 3:10 p.m. | Last Modified: 19 Aug 2019, 3:10 p.m.
Panel Version: 1.225
Comment on phenotypes: Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism)
Created: 19 Aug 2019, 3:09 p.m. | Last Modified: 19 Aug 2019, 3:09 p.m.
Panel Version: 1.225

History Filter Activity

19 Aug 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PHGDH were set to 27604308; 24816252

19 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

19 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PHGDH were changed from Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815 to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815

19 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PHGDH were changed from Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia; Intellectual disability to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PHGDH. Source London North GLH was added to PHGDH.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: PHGDH was added gene: PHGDH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHGDH were set to 27604308; 24816252 Phenotypes for gene: PHGDH were set to Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia; Intellectual disability