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Lysosomal storage disorder v1.49 NAGLU Sarah Leigh Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 to Mucopolysaccharidosis type IIIB (Sanfilippo B) OMIM:252920; Sanfilippo syndrome type B MONDO:0009656
Lysosomal storage disorder v0.3 NAGLU Emma Ashton reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 NAGLU Carol Hardy reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.2 NAGLU Ivone Leong gene: NAGLU was added
gene: NAGLU 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: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920