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| Lysosomal storage disorder v1.7 | ASAH1 | Sarah Leigh Phenotypes for gene: ASAH1 were changed from Farber lipogranulomatosis 228000 to Farber lipogranulomatosis OMIM:228000; Farber lipogranulomatosis MONDO:0009218 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | ASAH1 | Emma Ashton reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | ASAH1 | Carol Hardy reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Farber lipogranulomatosis 228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.2 | ASAH1 |
Ivone Leong gene: ASAH1 was added gene: ASAH1 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: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASAH1 were set to Farber lipogranulomatosis 228000 |
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