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| Lysosomal storage disorder v1.29 | GM2A | Sarah Leigh Phenotypes for gene: GM2A were changed from GM2-gangliosidosis, AB variant 272750 to GM2-gangliosidosis, AB variant OMIM:272750; Tay-Sachs disease AB variant MONDO:0010099 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.6 | GM2A | Carol Hardy Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.6 | GM2A | Carol Hardy Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | GM2A | Emma Ashton reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | GM2A | Carol Hardy reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GM2-gangliosidosis, AB variant 272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.2 | GM2A |
Ivone Leong gene: GM2A was added gene: GM2A 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: GM2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GM2A were set to GM2-gangliosidosis, AB variant 272750 |
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