Likely inborn error of metabolism
Gene: SHPK

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

1 review

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

SHPK deficiency is characterized by increased urinary erythritol and sedoheptulose; additional phenotypic consequences of this deficiency are unclear. Omim lists as non-pathogenic phenotype
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
[Sedoheptulokinase deficiency] 617213

Publications

Created: 23 Feb 2017, 5:16 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

London North GLH
NHS GMS
Expert Review Red

Phenotypes

Sedoheptulokinase deficiency (Other metabolic disorders)
[Sedoheptulokinase deficiency] 617213

OMIM

605060

Clinvar variants

Variants in SHPK

Penetrance

None

Publications

27604308

Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SHPK. Source London North GLH was added to SHPK.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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