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Inborn errors of metabolism

Gene: SHPK

Red List (low evidence)

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

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
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

Ellen McDonagh (Genomics England Curator)

gene: SHPK was added gene: SHPK was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SHPK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHPK were set to 27604308 Phenotypes for gene: SHPK were set to Sedoheptulokinase deficiency (Other metabolic disorders); [Sedoheptulokinase deficiency] 617213