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Adult onset neurodegenerative disorder v1.74 L2HGDH Louise Daugherty reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.72 L2HGDH Nick Beauchamp reviewed gene: L2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: L-2-hydroxyglutaric aciduria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.69 L2HGDH Louise Daugherty Source NHS GMS was added to L2HGDH.
Adult onset neurodegenerative disorder v1.67 L2HGDH Louise Daugherty Source Yorkshire and North East GLH was added to L2HGDH.
Adult onset neurodegenerative disorder v0.2 L2HGDH Rebecca Foulger gene: L2HGDH was added
gene: L2HGDH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: L2HGDH was set to Unknown
Phenotypes for gene: L2HGDH were set to Dystonia