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Neurodegenerative disorders, adult onset v1.74 MAT1A Louise Daugherty reviewed gene: MAT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.72 MAT1A Nick Beauchamp reviewed gene: MAT1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Methionine adenosyltransferase deficiency, autosomal recessive, 250850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.69 MAT1A Louise Daugherty Source NHS GMS was added to MAT1A.
Neurodegenerative disorders, adult onset v1.67 MAT1A Louise Daugherty Source Yorkshire and North East GLH was added to MAT1A.
Neurodegenerative disorders, adult onset v0.2 MAT1A Rebecca Foulger gene: MAT1A was added
gene: MAT1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: MAT1A was set to Unknown
Phenotypes for gene: MAT1A were set to Dystonia