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| Miscellaneous Metabolic Disorders v0.341 | SHPK | Bryony Thompson Classified gene: SHPK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.341 | SHPK | Bryony Thompson Added comment: Comment on list classification: Likely benign disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.341 | SHPK | Bryony Thompson Gene: shpk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.340 | SHPK |
Bryony Thompson 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 Added comment: 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 |
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