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| Miscellaneous Metabolic Disorders v1.53 | DMGDH | Chirag Patel Phenotypes for gene: DMGDH were changed from Dimethylglycine dehydrogenase deficiency MIM#605850; Disorders and variants of other enzymes that oxidise xenobiotics to Dimethylglycine dehydrogenase deficiency MIM#605850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.52 | DMGDH | Chirag Patel Classified gene: DMGDH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.52 | DMGDH | Chirag Patel Gene: dmgdh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.51 | DMGDH | Chirag Patel reviewed gene: DMGDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dimethylglycine dehydrogenase deficiency MONDO:0011610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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