| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Lysosomal Storage Disorder v1.4 | ARSK | Zornitza Stark Marked gene: ARSK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.4 | ARSK | Zornitza Stark Gene: arsk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.4 | ARSK | Zornitza Stark Phenotypes for gene: ARSK were changed from Mucopolysaccharidosis MONDO:0019249, ARSK-related to Mucopolysaccharidosis MONDO:0019249, ARSK-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.4 | ARSK | Zornitza Stark Phenotypes for gene: ARSK were changed from Mucopolysaccharidosis to Mucopolysaccharidosis MONDO:0019249, ARSK-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.3 | ARSK | Zornitza Stark Classified gene: ARSK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.3 | ARSK | Zornitza Stark Gene: arsk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.2 | ARSK |
Paul De Fazio gene: ARSK was added gene: ARSK was added to Lysosomal Storage Disorder. Sources: Literature Mode of inheritance for gene: ARSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSK were set to 34916232; 32856704 Phenotypes for gene: ARSK were set to Mucopolysaccharidosis Review for gene: ARSK was set to GREEN gene: ARSK was marked as current diagnostic Added comment: 4 individuals from 2 unrelated consanguineous families reported with a homozygous missense and an NMD-predicted nonsense variant, who had features of mucopolysaccharidosis such as short stature, coarse facial features and dysostosis multiplex. Urinary GAG excretion was normal by conventional methods, but LC-MS/MS in 2 individuals revealed an increase in specific dermatan sulfate-derived disaccharides. Functional studies showed reduced protein levels and reduced enzyme activity for the nonsense and missense variant respectively. A mouse model also shows a mucopolysaccharidosis phenotype, albeit milder. Rated green (2 families, functional evidence, mouse model). Sources: Literature |
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