PGK1

phosphoglycerate kinase 1
OMIM: 311800
PanelMode of inheritanceDetails
6 panels
R-numbers: R419
Signed-off version 1.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Phosphoglycerate kinase 1 deficiency, OMIM:300653
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
PHOSPHOGLYCERATE KINASE 1 DEFICIENCY 300653
R-numbers: R274
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Phosphoglycerate kinase 1 deficiency 300653
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Phosphoglycerate kinase 1 deficiency
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Phosphoglycerate kinase 1 deficiency, 300653, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (PGK1D)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Phosphoglycerate kinase 1 deficiency 300653