Glycogen Storage Diseases
Gene: PHKA2

PHKA2 (phosphorylase kinase regulatory subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000044446
EnsemblGeneIds (GRCh37): ENSG00000044446
OMIM: 300798, Gene2Phenotype
PHKA2 is in 6 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Glycogen storage disease, type IXa1 and type IXa2 caused by PHKA2 missense, PTC, and small del/dups (PMID: 10330341). The PHKA2 genotype and biochemical phenotype (type IXa1 or type IXa2) not clearly established.
Created: 25 Feb 2021, 9:41 p.m. | Last Modified: 25 Feb 2021, 9:41 p.m.

Panel Version: 0.49

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Glycogen storage disease, type IXa1; Glycogen storage disease, type IXa2

Publications

PMID: 10330341

Created: 25 Feb 2021, 9:41 p.m.
Last Modified: 25 Feb 2021, 9:41 p.m.
Panel version: 0.49

Details

Mode of Inheritance

Unknown

Sources

Victorian Clinical Genetics Services
Expert Review Green

OMIM

300798

Clinvar variants

Variants in PHKA2

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PHKA2 was added gene: PHKA2 was added to Glycogen Storage Diseases_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PHKA2 was set to Unknown

Glycogen Storage Diseases Gene: PHKA2