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| Childhood onset dystonia, chorea or related movement disorder v8.12 | OGDH | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available (five unrelated families) for the association of biallelic OGDH variants with global developmental delay. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: There is sufficient evidence available (four unrelated families) for the association of biallelic OGDH variants with childhood-onset dystonia. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v8.12 | OGDH | Achchuthan Shanmugasundram Entity copied from Intellectual disability v10.83 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v8.12 | OGDH |
Achchuthan Shanmugasundram gene: OGDH was added gene: OGDH was added to Childhood onset dystonia, chorea or related movement disorder. Sources: Expert Review Amber,Literature Q3_26_promote_green tags were added to gene: OGDH. Mode of inheritance for gene: OGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OGDH were set to 32383294; 36520152 Phenotypes for gene: OGDH were set to Oxoglutarate dehydrogenase deficiency, OMIM:203740; oxoglutaricaciduria, MONDO:0008759 |
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