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| 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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| Lysosomal Storage Disorder v1.1 | CLCN7 |
Zornitza Stark gene: CLCN7 was added gene: CLCN7 was added to Lysosomal Storage Disorder. Sources: Literature Mode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLCN7 were set to 31155284 Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541 Mode of pathogenicity for gene: CLCN7 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: CLCN7 was set to AMBER Added comment: Two individuals reported with same missense variant and hypopigmentation, organomegaly, and delayed myelination and development. Variant is GoF. No osteopetrosis, biopsy findings from skin and other organs are consistent with a lysosomal storage disorder. IUGR, prematurity and polyhydramnios are features. Bi-allelic variants in this gene are associated with osteopetrosis. Sources: Literature |
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| Lysosomal Storage Disorder v0.180 | TPP1 |
Zornitza Stark changed review comment from: Over 300 families reported, mutational spectrum reviewed in PMID 31283065. Two known pathogenic variants, c.509-1 G>C and c.622 C>T (p.(Arg208*)), collectively occurred in 60% of affected individuals in the sample, and accounted for 50% of disease-associated alleles.; to: Over 300 families reported, mutational spectrum reviewed in PMID 31283065. Two known pathogenic variants, c.509-1 G>C and c.622 C>T (p.(Arg208*)), collectively occurred in 60% of affected individuals in the sample, and accounted for 50% of disease-associated alleles. Clinical course is characterised by progressive neurological deterioration and seizures. |
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| Lysosomal Storage Disorder v0.140 | IDUA | Zornitza Stark Marked gene: IDUA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.140 | IDUA | Zornitza Stark Gene: idua has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.140 | IDUA | Zornitza Stark Phenotypes for gene: IDUA were changed from to Mucopolysaccharidosis Ih, MIM# 607014; Mucopolysaccharidosis Ih/s, MIM# 607015; Mucopolysaccharidosis Is, MIM# 607016; Mucopolysaccharidosis type 1, MONDO:0001586 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.139 | IDUA | Zornitza Stark Mode of inheritance for gene: IDUA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.138 | IDUA | Zornitza Stark reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis Ih, MIM# 607014, Mucopolysaccharidosis Ih/s, MIM# 607015, Mucopolysaccharidosis Is, MIM# 607016, Mucopolysaccharidosis type 1, MONDO:0001586; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v0.0 | IDUA |
Zornitza Stark gene: IDUA was added gene: IDUA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IDUA was set to Unknown |
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