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Adult onset neurodegenerative disorder v1.74 MCOLN1 Louise Daugherty reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.72 MCOLN1 Nick Beauchamp reviewed gene: MCOLN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis IV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.69 MCOLN1 Louise Daugherty Source NHS GMS was added to MCOLN1.
Adult onset neurodegenerative disorder v1.67 MCOLN1 Louise Daugherty Source Yorkshire and North East GLH was added to MCOLN1.
Adult onset neurodegenerative disorder v0.2 MCOLN1 Rebecca Foulger gene: MCOLN1 was added
gene: MCOLN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: MCOLN1 was set to Unknown
Phenotypes for gene: MCOLN1 were set to Dystonia