Disorders

PHKG2-Related Phosphorylase Kinase Deficiency

Synonym(s): Glycogen Storage Disease Type IXc, GSD IXc, GSDIXc, PHKG2-Related Glycogen Storage Disease Type IX

Gene	Locus	Protein
PHKG2	16p11.2	Phosphorylase b kinase gamma catalytic chain

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Duke University Health System, Molecular Diagnostics Laboratory - Durham, NC, USA
GSTS Pathology, DNA Laboratory - London, Great Britain
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.