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Severe Paediatric Disorders v0.17 | DGUOK | Louise Daugherty Mode of inheritance for gene DGUOK was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | DGUOK | Louise Daugherty reviewed gene: DGUOK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | DGUOK | Louise Daugherty Publications for gene DGUOK were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | DGUOK | Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Portal hypertension, noncirrhotic, 617068 for gene: DGUOK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | DGUOK | Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Portal hypertension, noncirrhotic, 617068 for gene: DGUOK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | DGUOK | Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Portal hypertension, noncirrhotic, 617068 for gene: DGUOK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | DGUOK | Louise Daugherty Added phenotypes Portal hypertension, noncirrhotic, 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 for gene: DGUOK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | DGUOK | Louise Daugherty Source Next Generation Children Project was added to DGUOK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | DGUOK |
Louise Daugherty Source Expert Review Green was added to DGUOK. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | DGUOK |
Louise Daugherty gene: DGUOK was added gene: DGUOK was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: DGUOK was set to |