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Inborn errors of metabolism

Gene: PHKA1

Green List (high evidence)

PHKA1 (phosphorylase kinase regulatory subunit alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000067177
EnsemblGeneIds (GRCh37): ENSG00000067177
OMIM: 311870, Gene2Phenotype
PHKA1 is in 8 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least five variants reported in at least six cases
Created: 17 Jan 2017, 4:40 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:01 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Muscle glycogenosis, 300559
OMIM
311870
Clinvar variants
Variants in PHKA1
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 PHKA1. Source London North GLH was added to PHKA1.

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PHKA1 were changed from to Muscle glycogenosis, 300559

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

Ellen McDonagh (Genomics England Curator)

gene: PHKA1 was added gene: PHKA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHKA1 were set to 27604308