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Miscellaneous Metabolic Disorders v0.336 DMGDH Bryony Thompson Marked gene: DMGDH as ready
Miscellaneous Metabolic Disorders v0.336 DMGDH Bryony Thompson Gene: dmgdh has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.336 DMGDH Bryony Thompson Classified gene: DMGDH as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.336 DMGDH Bryony Thompson Gene: dmgdh has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.335 DMGDH Bryony Thompson gene: DMGDH was added
gene: DMGDH was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: DMGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMGDH were set to 11231903; 18937046; 28881522; 27604308
Phenotypes for gene: DMGDH were set to Dimethylglycine dehydrogenase deficiency MIM#605850; Disorders and variants of other enzymes that oxidise xenobiotics
Review for gene: DMGDH was set to AMBER
Added comment: Apparently only 2 cases with biallelic variants reported, and in vitro functional analyses the originally reported variant (H109R)
Sources: Literature