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PHGDH

phosphoglycerate dehydrogenase
OMIM: 606879, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green PHGDH in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.108	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neu-Laxova syndrome 1, MIM# 256520
Red PHGDH in White matter disorders and cerebral calcification - childhood onset Level 2: Neurology Version 8.7 Latest signed off version: v8.6 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Phosphoglycerate dehydrogenase deficiency, MIM#601815
Amber PHGDH in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.30 Latest signed off version: v9.22 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neu-Laxova syndrome 1, 256520
Red PHGDH in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Phosphoglycerate dehydrogenase deficiency, MIM#601815
Amber PHGDH in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.87	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Literature Illumina TruGenome Clinical Sequencing Services Phenotypes Neu-Laxova syndrome 1, 256520
Green PHGDH in Skeletal dysplasia Level 2: Musculoskeletal Version 10.5 Latest signed off version: v10.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Phenotypes Neu-Laxova syndrome 1 256520 Phosphoglycerate dehydrogenase deficiency 601815
Green PHGDH in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neu-Laxova syndrome 1 256520 Phosphoglycerate dehydrogenase deficiency 601815
Green PHGDH in Likely inborn error of metabolism Level 2: Metabolic Version 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Neu-Laxova syndrome 1 256520 Phosphoglycerate dehydrogenase deficiency 601815
Green PHGDH in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY NEU-LAXOVA SYNDROME
Green PHGDH in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY 601815 NEU-LAXOVA SYNDROME 256520
Amber PHGDH in Clefting Level 2: Musculoskeletal Version 7.9 Latest signed off version: v7.8 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes NEU-LAXOVA SYNDROME 1 NLS1
Green PHGDH in Early onset or syndromic epilepsy Level 2: Neurology Version 9.73 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Phosphoglycerate dehydrogenase deficiency 601815
Green PHGDH in Intellectual disability Level 2: Developmental disorders Version 11.23 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Phosphoglycerate dehydrogenase deficiency, 601815 NEU-LAXOVA SYNDROME NLS
Red PHGDH in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	Not set	Sources Expert Review Red London North GLH