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  2. Ketotic hypoglycaemia
  3. PHKG2
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Ketotic hypoglycaemia

Gene: PHKG2

Green List (high evidence)
PHKG2 (phosphorylase kinase catalytic subunit gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000156873
EnsemblGeneIds (GRCh37): ENSG00000156873
OMIM: 172471, Gene2Phenotype
PHKG2 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 list classification: Gene added by reviewer and rated as green for inclusion on this panel. Found in 2/4 sources. Multiple cases reported in OMIM.
Created: 8 Jun 2016, 8:39 a.m.
Comment on mode of inheritance: Source: OMIM and publications.
Created: 8 Jun 2016, 8:38 a.m.
Created: 8 Jun 2016, 8:38 a.m.

Panel version: 0.119

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • hepatomegaly and variable myopathy
  • Glycogen storage disease IXc, 613027
  • Cirrhosis due to liver phosphorylase kinase deficiency
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
OMIM
172471
Clinvar variants
Variants in PHKG2
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Jun 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).

8 Jun 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).

8 Jun 2016, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PHKG2 was changed to BIALLELIC, autosomal or pseudoautosomal

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)

PHKG2 was added to Ketotic hypoglycaemiapanel. Sources: Literature