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Lysosomal storage disorder v1.42 | LAMP2 | Sarah Leigh Phenotypes for gene: LAMP2 were changed from Danon disease 300257 to Danon disease OMIM:300257; Danon disease MONDO:0010281 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal storage disorder v0.9 | LAMP2 | Sarah Leigh Mode of inheritance for gene: LAMP2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal storage disorder v0.8 | LAMP2 | Carol Hardy Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal storage disorder v0.3 | LAMP2 | Carol Hardy reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Danon disease 300257; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal storage disorder v0.2 | LAMP2 |
Ivone Leong gene: LAMP2 was added gene: LAMP2 was added to Lysosomal storage disorder. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: LAMP2 was set to Phenotypes for gene: LAMP2 were set to Danon disease 300257 |