Glycogen Storage Diseases
Gene: PHKB

PHKB (phosphorylase kinase regulatory subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000102893
EnsemblGeneIds (GRCh37): ENSG00000102893
OMIM: 172490, Gene2Phenotype
PHKB is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 6 Mar 2021, 7:09 a.m. | Last Modified: 6 Mar 2021, 7:09 a.m.

Panel Version: 0.69

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750; Glycogen storage disease IXb

Publications

Created: 6 Mar 2021, 7:09 a.m.
Last Modified: 6 Mar 2021, 7:09 a.m.
Panel version: 0.69

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
Glycogen storage disease IXb, MONDO:0009868

OMIM

172490

Clinvar variants

Variants in PHKB

Penetrance

None

Publications

Panels with this gene