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Lysosomal Storage Disorder v0.54 | ASAH1 | Zornitza Stark Marked gene: ASAH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.54 | ASAH1 | Zornitza Stark Gene: asah1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.54 | ASAH1 | Zornitza Stark Phenotypes for gene: ASAH1 were changed from to Farber lipogranulomatosis, MIM# 228000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.53 | ASAH1 | Zornitza Stark Mode of inheritance for gene: ASAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.52 | ASAH1 | Zornitza Stark reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Farber lipogranulomatosis, MIM# 228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.0 | ASAH1 |
Zornitza Stark gene: ASAH1 was added gene: ASAH1 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ASAH1 was set to Unknown |