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Adult onset neurodegenerative disorder v1.74 MMADHC Louise Daugherty reviewed gene: MMADHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.72 MMADHC Nick Beauchamp reviewed gene: MMADHC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Methylmalonic aciduria, cblD type, variant 2, 277410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.69 MMADHC Louise Daugherty Source NHS GMS was added to MMADHC.
Adult onset neurodegenerative disorder v1.67 MMADHC Louise Daugherty Source Yorkshire and North East GLH was added to MMADHC.
Adult onset neurodegenerative disorder v0.2 MMADHC Rebecca Foulger gene: MMADHC was added
gene: MMADHC was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: MMADHC was set to Unknown
Phenotypes for gene: MMADHC were set to Dystonia