Miscellaneous Metabolic Disorders

Gene: SHPK

Amber List (moderate evidence)

SHPK (sedoheptulokinase)
EnsemblGeneIds (GRCh38): ENSG00000197417
EnsemblGeneIds (GRCh37): ENSG00000197417
OMIM: 605060, Gene2Phenotype
SHPK is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Comment on list classification: Likely benign disorder
Created: 9 Feb 2021, 1:49 a.m. | Last Modified: 9 Feb 2021, 1:49 a.m.
Panel Version: 0.341
2 unrelated cases reported, with elevated excretion of erythritol and sedoheptulose, and each had a homozygous nonsense variant. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis multiplex, multiple contractures, and dysmorphisms. Due to inconsistency in phenotypes, likely SHPK deficiency is a benign disorder.
Sources: Literature
Created: 9 Feb 2021, 1:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sedoheptulokinase deficiency MIM#617213

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Sedoheptulokinase deficiency MIM#617213
OMIM
605060
Clinvar variants
Variants in SHPK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: shpk has been classified as Amber List (Moderate Evidence).

9 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SHPK was added gene: SHPK was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: SHPK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHPK were set to 25647543; 27604308 Phenotypes for gene: SHPK were set to Sedoheptulokinase deficiency MIM#617213 Review for gene: SHPK was set to AMBER