Rhabdomyolysis and metabolic muscle disorders

Gene: PHKG1

Red List (low evidence)

PHKG1 (phosphorylase kinase catalytic subunit gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000164776
EnsemblGeneIds (GRCh37): ENSG00000164776
OMIM: 172470, Gene2Phenotype
PHKG1 is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Potentially significant with regard to role in glycogenolytic regulation. No disease associated variants reported to date
Created: 27 Jun 2017, 11:49 a.m.

Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

No reported disease association to date.
Created: 8 Jun 2017, 7:34 a.m.

Mode of inheritance

Mode of pathogenicity

History Filter Activity

4 Jan 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

24 Nov 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PHKG1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN

24 Nov 2016, Gel status: 0


Sarah Leigh (Genomics England Curator)

PHKG1 was created by sleigh