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  3. PHKB
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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

Created: 6 Mar 2021, 7:11 a.m.
Last Modified: 6 Mar 2021, 7:11 a.m.
Panel version: Imported from Mendeliome panel version 0.6620

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

Created: 12 Feb 2020, 12:12 a.m.
Last Modified: 12 Feb 2020, 12:12 a.m.
Panel version: Imported from Myopathy Superpanel panel version 0.10

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