Genomics England
GMS Panels
Panels
Genes and Entities

GK

glycerol kinase
OMIM: 300474
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
GLYCEROL KINASE DEFICIENCY 307030
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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Glycerol kinase deficiency, 307030, GLYCEROL KINASE DEFICIENCY
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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Glycerol kinase deficiency 307030