Genes in panel
STRs in panel
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Inborn errors of metabolism

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

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

No phenotype associated with this gene
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
Unknown

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
OMIM
172470
Clinvar variants
Variants in PHKG1
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: PHKG1 was added gene: PHKG1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PHKG1 was set to Unknown