Disorders

PHKB-Related Phosphorylase Kinase Deficiency

Synonym(s): Glycogen Storage Disease Type IXb, GSD IXb, GSDIXb, GPHKB-Related Glycogen Storage Disease Type IX

Gene	Locus	Protein
PHKB	16q12-q13	Phosphorylase b kinase regulatory subunit beta

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Centogene AG, Rare Disease Company - Rostock, Germany
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

^* 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.