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| Lysosomal storage disorder v1.50 | NEU1 | Sarah Leigh Phenotypes for gene: NEU1 were changed from Sialidosis, type II 256550; Sialidosis, type I 256550 to Sialidosis, type II OMIM:256550; Sialidosis, type I OMIM:256550; sialidosis type 2 MONDO:0009738 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | NEU1 | Emma Ashton reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | NEU1 | Carol Hardy reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sialidosis, type I 256550, Sialidosis, type II 256550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.2 | NEU1 |
Ivone Leong gene: NEU1 was added gene: NEU1 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: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEU1 were set to Sialidosis, type II 256550; Sialidosis, type I 256550 |
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