Table 1 Phosphorylase kinase (PhK) subunit genes known to cause PhK deficiency

From: Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Gene

PhK subunit

Location

Inheritance

Tissue/organ primarily affected

PHKA1

α

Xq13.1

X-linked

Muscle

PHKA2

α

Xp22.13

X-linked

Liver

PHKB

β

16q12.1

Autosomal recessive

Liver

PHKG2

γ

16p11.2

Autosomal recessive

Liver

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