Rhabdomyolysis and metabolic muscle disorders

Gene: PHKB

Green List (high evidence)

PHKB (phosphorylase kinase regulatory subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000102893
EnsemblGeneIds (GRCh37): ENSG00000102893
OMIM: 172490, Gene2Phenotype
PHKB is in 8 panels

2 reviews

Zornitza Stark (Australian Genomics)

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: 7 Oct 2020, 10:48 p.m. | Last Modified: 7 Oct 2020, 10:48 p.m.
Panel Version: 1.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 6 variants reported
Created: 5 Dec 2016, 11:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Literature
Phenotypes
  • Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
OMIM
172490
Clinvar variants
Variants in PHKB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

5 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Dec 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

PHKB was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Literature,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PHKB was created by sleigh