Rhabdomyolysis and metabolic muscle disorders

Gene: PHKB

Red List (low evidence)

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

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

• 9215682
• 30397902

Red List (low evidence)

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 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

• 27604308