Glycogen Storage Diseases
Gene: PHKG2

PHKG2 (phosphorylase kinase catalytic subunit gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000156873
EnsemblGeneIds (GRCh37): ENSG00000156873
OMIM: 172471, Gene2Phenotype
PHKG2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Glycogen storage disease IXc is characterized by onset in childhood of hepatomegaly, hypotonia, growth retardation in childhood, and liver dysfunction. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis.
Created: 6 Mar 2021, 7:01 a.m. | Last Modified: 6 Mar 2021, 7:01 a.m.

Panel Version: 0.66

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease IXc, MIM# 613027

Publications

Created: 6 Mar 2021, 7:01 a.m.
Last Modified: 6 Mar 2021, 7:01 a.m.
Panel version: 0.66

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Glycogen storage disease IXc, MIM# 613027

OMIM

172471

Clinvar variants

Variants in PHKG2

Penetrance

None

Publications

Panels with this gene