Glycogen storage disease
Gene: PHKB

PHKB (phosphorylase kinase regulatory subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000102893
EnsemblGeneIds (GRCh37): ENSG00000102893
OMIM: 172490, Gene2Phenotype
PHKB is in 7 panels

2 reviews

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 13 Feb 2019, 1:09 p.m.

Panel version: 0.3

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease Ixb, Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750

Publications

21634085

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Feb 2019, 1:09 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Wessex and West Midlands GLH
London North GLH
Expert Review Green

Phenotypes

Glycogen storage disease Ixb, Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750

OMIM

172490

Clinvar variants

Variants in PHKB

Penetrance

None

Publications

21634085

Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: PHKB was added gene: PHKB was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHKB were set to 21634085 Phenotypes for gene: PHKB were set to Glycogen storage disease Ixb, Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750

Glycogen storage disease Gene: PHKB