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Lysosomal storage disorder v1.17 | CTSA | Sarah Leigh Phenotypes for gene: CTSA were changed from Galactosialidosis 256540 to Galactosialidosis OMIM:256540; galactosialidosis MONDO:0009737 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal storage disorder v0.3 | CTSA | Emma Ashton reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal storage disorder v0.3 | CTSA | Carol Hardy reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Galactosialidosis 256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal storage disorder v0.2 | CTSA |
Ivone Leong gene: CTSA was added gene: CTSA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSA were set to Galactosialidosis 256540 |