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  3. PHKG2
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Glycogen storage disease

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

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease IXc 613027

Publications

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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • London North GLH
  • Expert Review Green
Phenotypes
  • Glycogen storage disease IXc 613027
OMIM
172471
Clinvar variants
Variants in PHKG2
Penetrance
None
Publications
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: PHKG2 was added gene: PHKG2 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: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHKG2 were set to 21634085 Phenotypes for gene: PHKG2 were set to Glycogen storage disease IXc 613027