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Acute rhabdomyolysis

Gene: PHKB

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

Comment on list classification: PHKB gene was demoted to Red in 'Rhabdomyolysis and metabolic muscle disorders' panel (https://panelapp.genomicsengland.co.uk/panels/66/gene/PHKB/) in agreement with the NHS Genomic Medicine Service. Hence, we propose that this gene should be reviewed for demotion to red in this panel.
Created: 23 Aug 2023, 2:48 p.m. | Last Modified: 23 Aug 2023, 2:48 p.m.
Panel Version: 1.13
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).

PHKB has been associated with phenotype in OMIM (MIM #261750), but not in Gene2Phenotype.
Created: 23 Aug 2023, 2:44 p.m. | Last Modified: 23 Aug 2023, 2:44 p.m.
Panel Version: 1.12

Phenotypes
Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, OMIM:261750

Created: 23 Aug 2023, 2:44 p.m.
Last Modified: 23 Aug 2023, 2:44 p.m.
Panel version: 1.12

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval. Additional comments from reviewing GLHs: NW: In keeping with previous NHS GMS review for equivalent panel. NEY: PHKB which has never had an association with Rhabdomyolysis and so I agree with its removal from the panel.
Created: 5 Dec 2024, 4:19 p.m. | Last Modified: 5 Dec 2024, 4:19 p.m.
Panel Version: 1.21
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
Created: 16 Feb 2022, 2:32 p.m.
Last Modified: 16 Feb 2022, 2:32 p.m.
Panel version: 1.21

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, OMIM:261750
OMIM
172490
Clinvar variants
Variants in PHKB
Penetrance
None
Panels with this gene

History Filter Activity

5 Dec 2024, Gel status: 1

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_23_expert_review was removed from gene: PHKB. Tag Q3_23_demote_red was removed from gene: PHKB.

5 Dec 2024, Gel status: 1

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Red was added to PHKB. Rating Changed from Green List (high evidence) to Red List (low evidence)

23 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: phkb has been classified as Green List (High Evidence).

23 Aug 2023, Gel status: 3

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_expert_review tag was added to gene: PHKB. Tag Q3_23_demote_red tag was added to gene: PHKB.

19 Jan 2022, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: PHKB was added gene: PHKB was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS 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, OMIM:261750