Rhabdomyolysis and Metabolic Myopathy
Gene: PHKB
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
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
Gene: phkb has been classified as Red List (Low Evidence).
Publications for gene: PHKB were set to
Gene: phkb has been classified as Red List (Low Evidence).
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