Ketotic hypoglycaemia

Gene: PHKB

Green List (high evidence)

PHKB (phosphorylase kinase regulatory subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000102893
EnsemblGeneIds (GRCh37): ENSG00000102893
OMIM: 172490, Gene2Phenotype
PHKB is in 8 panels

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Compound heterozygous cases reported in OMIM.
Created: 6 Apr 2016, 10:08 a.m.
Comment on list classification: Promoted from amber to green due to expert review, and information available on OMIM for the association with glycogen storage disease IXb.
Created: 6 Apr 2016, 10:06 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • hepatomegaly and variable myopathy
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
OMIM
172490
Clinvar variants
Variants in PHKB
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Apr 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PHKB was changed to BIALLELIC, autosomal or pseudoautosomal

6 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Oct 2015, Gel status: 2

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

19 Oct 2015, Gel status: 0

Added New Source

Alexander Broomfield (Central Manchester Foundation Trust)

PHKB was added to Ketotic hypoglycaemiapanel. Sources: Literature