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Newborns main panel

Gene: PHKB

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.
Panel Version: 0.137
PMID: 30659246 - review 20 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

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

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PHKB. Added phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive for gene: PHKB Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive for gene: PHKB

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive for gene: PHKB

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PHKB. Added phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive for gene: PHKB Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive for gene: PHKB

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: PHKB was added gene: PHKB was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal