Genomics England

PHGDH

phosphoglycerate dehydrogenase

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY 601815, NEU-LAXOVA SYNDROME 256520
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Phosphoglycerate dehydrogenase deficiency 601815
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, NEU-LAXOVA SYNDROME
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Phosphoglycerate dehydrogenase deficiency, 601815, NEU-LAXOVA SYNDROME, NLS
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neu-Laxova syndrome 1 256520, Phosphoglycerate dehydrogenase deficiency 601815
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.31	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neu-Laxova syndrome 1 256520, Phosphoglycerate dehydrogenase deficiency 601815