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| Likely inborn error of metabolism - targeted testing not possible v1.227 | PHGDH | Sarah Leigh Publications for gene: PHGDH were set to 27604308; 24816252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.226 | PHGDH | Sarah Leigh Classified gene: PHGDH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.226 | PHGDH |
Sarah Leigh Added comment: 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. |
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| Likely inborn error of metabolism - targeted testing not possible v1.226 | PHGDH | Sarah Leigh Gene: phgdh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.225 | PHGDH | Sarah Leigh Added comment: Comment on phenotypes: Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.225 | PHGDH | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.225 | PHGDH | Sarah Leigh Added comment: Comment on phenotypes: Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.225 | PHGDH | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | PHGDH |
Ivone Leong Source NHS GMS was added to PHGDH. Source London North GLH was added to PHGDH. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PHGDH |
Ellen McDonagh 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 |
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