Rhabdomyolysis and metabolic muscle disorders
Gene: PHKB
The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:55 p.m. | Last Modified: 1 Feb 2023, 2:55 p.m.
Panel Version: 2.5
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
Although pathogenic variants in PHKB result in reduced levels of phosphorylase kinase in the liver and muscle, it would appear that this results in hepatomegaly and minimal effect on the muscles (PMID 9215682 & 30397902).Created: 24 Nov 2021, 11:54 a.m. | Last Modified: 24 Nov 2021, 11:54 a.m.
Panel Version: 1.59
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 6 variants reportedCreated: 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
Tag Q4_21_rating was removed from gene: PHKB. Tag Q4_21_phenotype was removed from gene: PHKB. Tag Q2_22_expert_review was removed from gene: PHKB.
Source Expert Review Red was added to PHKB. Source NHS GMS was added to PHKB. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag Q2_22_expert_review tag was added to gene: PHKB.
Publications for gene: PHKB were set to 27604308; 9215682; 30397902
Tag Q4_21_rating tag was added to gene: PHKB. Tag Q4_21_phenotype tag was added to gene: PHKB.
Publications for gene: PHKB were set to 27604308
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
PHKB was created by sleigh
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