Glycogen storage disease
Gene: PHKA2

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

2 reviews

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

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

Created: 13 Feb 2019, 1:09 p.m.

Panel version: 0.3

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

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

Phenotypes
Glycogen storage disease, type IXa1 306000; Glycogen storage disease, type IXa2 306000

Publications

21634085

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Feb 2019, 1:09 p.m.

Panel version: 0.3

Details

Mode of Inheritance

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

Sources

NHS GMS
Wessex and West Midlands GLH
London North GLH
Expert Review Green

Phenotypes

Glycogen storage disease, type IXa2 306000
Glycogen storage disease, type IXa1 306000

OMIM

300798

Clinvar variants

Variants in PHKA2

Penetrance

None

Publications

21634085

Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: PHKA2 was added gene: PHKA2 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHKA2 were set to 21634085 Phenotypes for gene: PHKA2 were set to Glycogen storage disease, type IXa2 306000; Glycogen storage disease, type IXa1 306000

Glycogen storage disease Gene: PHKA2