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  2. Ketotic hypoglycaemia
  3. PHKA2
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Ketotic hypoglycaemia

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

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Mode of inheritance sourced from OMIM.
Created: 6 Apr 2016, 9:30 a.m.
Created: 6 Apr 2016, 9:30 a.m.

Panel version: 0.58

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • hepatomegaly and mild hypoglycaemia
  • Glycogen storage disease, type IXa1, 306000
  • Glycogen storage disease, type IXa2, 306000
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
OMIM
300798
Clinvar variants
Variants in PHKA2
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Apr 2016, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PHKA2 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

19 Oct 2015, Gel status: 3

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

19 Oct 2015, Gel status: 0

Added New Source

Alexander Broomfield (Central Manchester Foundation Trust)

PHKA2 was added to Ketotic hypoglycaemiapanel. Sources: Literature