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Lysosomal storage disorder v1.6 | ARSB | Sarah Leigh Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 to Mucopolysaccharidosis type VI (Maroteaux-Lamy) OMIM:253200; mucopolysaccharidosis type 6 MONDO:0009661 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal storage disorder v0.3 | ARSB | Emma Ashton reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal storage disorder v0.3 | ARSB | Carol Hardy reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal storage disorder v0.2 | ARSB |
Ivone Leong gene: ARSB was added gene: ARSB 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: ARSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 |