Genomics England
GMS Panels
Panels
Genes and Entities
PCK1
phosphoenolpyruvate carboxykinase 1
OMIM:
614168
See this entity in PanelApp
Panel
Mode of inheritance
Details
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1 panel
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
?Phosphoenolpyruvate carboxykinase deficiency, cytosolic 261680