Miscellaneous Metabolic Disorders
Gene: SHPK
Comment on list classification: Likely benign disorderCreated: 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: LiteratureCreated: 9 Feb 2021, 1:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sedoheptulokinase deficiency MIM#617213
Publications
Gene: shpk has been classified as Amber List (Moderate Evidence).
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