| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.41 | DMGDH | Zornitza Stark Marked gene: DMGDH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.41 | DMGDH | Zornitza Stark Gene: dmgdh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.41 | DMGDH | Zornitza Stark Classified gene: DMGDH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.41 | DMGDH | Zornitza Stark Gene: dmgdh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.18 | DMGDH |
Sangavi Sivagnanasundram gene: DMGDH was added gene: DMGDH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: DMGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DMGDH were set to 11231903 Phenotypes for gene: DMGDH were set to dimethylglycine dehydrogenase deficiency MONDO:0011610 Review for gene: DMGDH was set to RED Added comment: Classified Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022 - https://search.clinicalgenome.org/CCID:004660 Reported in one individual with abnormal choline metabolism. Sources: ClinGen |
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