PHGDH

phosphoglycerate dehydrogenase
OMIM: 606879
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY 601815, NEU-LAXOVA SYNDROME 256520
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phosphoglycerate dehydrogenase deficiency 601815
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, NEU-LAXOVA SYNDROME
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phosphoglycerate dehydrogenase deficiency, 601815, NEU-LAXOVA SYNDROME, NLS
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neu-Laxova syndrome 1 256520, Phosphoglycerate dehydrogenase deficiency 601815
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neu-Laxova syndrome 1 256520, Phosphoglycerate dehydrogenase deficiency 601815