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Newborns main panel

Gene: PHKA2

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.
Panel Version: 0.137
https://pubmed.ncbi.nlm.nih.gov/10330341/
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
MOI reviewed by clinical team.
Created: 10 Mar 2023, 11:21 a.m. | Last Modified: 10 Mar 2023, 11:21 a.m.
Panel Version: 0.42

Phenotypes
Glycogen storage disease, type IXa1

Created: 10 Mar 2023, 11:21 a.m.
Last Modified: 10 Mar 2023, 11:21 a.m.
Panel version: 0.137

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Glycogen storage disease, type IXa1
OMIM
300798
Clinvar variants
Variants in PHKA2
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to PHKA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PHKA2. Added phenotypes Glycogen storage disease, type IXa1 for gene: PHKA2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glycogen storage disease, type IXa1 for gene: PHKA2

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glycogen storage disease, type IXa1 for gene: PHKA2

9 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: PHKA2 were changed from Glycogen storage disease, type IXa1; Glycogen storage disease, type IXa2 to Glycogen storage disease, type IXa1

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PHKA2. Added phenotypes Glycogen storage disease, type IXa1 for gene: PHKA2 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: PHKA2 was added gene: PHKA2 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHKA2 were set to Glycogen storage disease, type IXa1; Glycogen storage disease, type IXa2