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  2. Likely inborn error of metabolism
  3. PHKG2
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Likely inborn error of metabolism

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • hepatomegaly and variable myopathy
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
  • Glycogen storage disease IXc, 613027
  • Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders)
  • Cirrhosis due to liver phosphorylase kinase deficiency
OMIM
172471
Clinvar variants
Variants in PHKG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PHKG2. Source London North GLH was added to PHKG2.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PHKG2 was added gene: PHKG2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHKG2 were set to 27604308 Phenotypes for gene: PHKG2 were set to hepatomegaly and variable myopathy; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen storage disease IXc, 613027; Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders); Cirrhosis due to liver phosphorylase kinase deficiency