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BabyScreen+ newborn screening

Gene: PHKB

Green List (high evidence)
PHKB (phosphorylase kinase regulatory subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000102893
EnsemblGeneIds (GRCh37): ENSG00000102893
OMIM: 172490, Gene2Phenotype
PHKB is in 5 panels

1 review

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

GSD IXB - marked isolated hepatomegaly; tendency to hypoglycaemia but not a prominent feature

clinical features apparent in the first few years of life

diagnosis can be confirmed by liver enzymology (and glycogen storage on histology of liver and muscle)

treatment with high protein diet and cornstarch supplementation (PMID: 30659246)
Created: 1 Nov 2022, 11:50 a.m. | Last Modified: 1 Nov 2022, 11:50 a.m.
Panel Version: 0.719

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
marked hepatomegaly; hypoglycaemia; short stature; fasting ketosis; hypotonia

Publications

  • https://www.ncbi.nlm.nih.gov/books/NBK55061/#gsd9.Summary

Created: 1 Nov 2022, 11:50 a.m.
Last Modified: 1 Nov 2022, 11:50 a.m.
Panel version: 0.719

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
  • Glycogen storage disease IXb, MONDO:0009868
Tags
treatable metabolic
OMIM
172490
Clinvar variants
Variants in PHKB
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: PHKB. Tag metabolic tag was added to gene: PHKB.

2 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Nov 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PHKB were changed from Phosphorylase kinase deficiency to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750; Glycogen storage disease IXb, MONDO:0009868

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PHKB was added gene: PHKB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHKB were set to Phosphorylase kinase deficiency