Ketotic hypoglycaemia
Gene: PHKB
PHKB (phosphorylase kinase regulatory subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000102893
EnsemblGeneIds (GRCh37): ENSG00000102893
OMIM: 172490, Gene2Phenotype
PHKB is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000102893
EnsemblGeneIds (GRCh37): ENSG00000102893
OMIM: 172490, Gene2Phenotype
PHKB is in 7 panels
2 reviews
Alexander Broomfield (Central Manchester Foundation Trust)
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