Likely inborn error of metabolism - targeted testing not possible
Gene: PHGDHComment 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
Publications for gene: PHGDH were set to 27604308; 24816252
Gene: phgdh has been classified as Green List (High Evidence).
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
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
Source NHS GMS was added to PHGDH. Source London North GLH was added to PHGDH.
Sarah Leigh: Associated with relevant pheno
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