PHGDH

phosphoglycerate dehydrogenase
OMIM: 606879
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY 601815, NEU-LAXOVA SYNDROME 256520
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, NEU-LAXOVA SYNDROME
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phosphoglycerate dehydrogenase deficiency 601815
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neu-Laxova syndrome 1 256520, Phosphoglycerate dehydrogenase deficiency 601815
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phosphoglycerate dehydrogenase deficiency, 601815, NEU-LAXOVA SYNDROME, NLS
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neu-Laxova syndrome 1 256520, Phosphoglycerate dehydrogenase deficiency 601815