| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital ophthalmoplegia v0.70 | DGUOK | Zornitza Stark Marked gene: DGUOK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.70 | DGUOK | Zornitza Stark Gene: dguok has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.70 | DGUOK | Zornitza Stark Classified gene: DGUOK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.70 | DGUOK | Zornitza Stark Gene: dguok has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.66 | DGUOK |
Shannon LeBlanc gene: DGUOK was added gene: DGUOK was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGUOK were set to PMID: 11687800; 12205643; 15887277 Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM 617070; portal hypertension, non cirrhotic OMIM 617068 Review for gene: DGUOK was set to GREEN Added comment: Mitochondrial DNA depletion syndrome-3: onset in infancy, progressive external ophthalmoplegia is a feature. Sources: Literature |
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