PHKB

phosphorylase kinase regulatory subunit beta
OMIM: 172490, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green PHKB in Glycogen Storage Diseases Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 Glycogen storage disease IXb, MONDO:0009868
Green PHKB in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 Glycogen storage disease IXb, MONDO:0009868
Red PHKB in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	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
Green PHKB in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Phosphorylase kinase deficiency
Green PHKB in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 Glycogen storage disease IXb, MONDO:0009868 Tags treatable metabolic