Rhabdomyolysis and Metabolic Myopathy

Gene: PHKB

Red List (low evidence)

PHKB (phosphorylase kinase regulatory subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000102893
EnsemblGeneIds (GRCh37): ENSG00000102893
OMIM: 172490, Gene2Phenotype
PHKB is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 6 Mar 2021, 7:11 a.m. | Last Modified: 6 Mar 2021, 7:11 a.m.
Panel Version: 0.6620

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750; Glycogen storage disease IXb, MONDO:0009868

Publications

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

No neuromuscular phenotype reported for condition. Even though the enzyme is active in skeletal muscle, pathogenic variants cause a mild clinical phenotype affecting the liver only.
Created: 12 Feb 2020, 12:12 a.m. | Last Modified: 12 Feb 2020, 12:12 a.m.
Panel Version: 0.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Phosphorylase kinase deficiency of liver and muscle, autosomal recessive MIM#261750

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Royal Melbourne Hospital
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
OMIM
172490
Clinvar variants
Variants in PHKB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phkb has been classified as Red List (Low Evidence).

7 Oct 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PHKB were set to

25 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: phkb has been classified as Red List (Low Evidence).

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PHKB was added gene: PHKB was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHKB were set to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750