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| Paroxysmal Dyskinesia v0.141 | ALDH5A1 | Zornitza Stark Marked gene: ALDH5A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.141 | ALDH5A1 | Zornitza Stark Gene: aldh5a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.141 | ALDH5A1 | Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from epilepsy; paroxysmal exercise induced dyskinesia; globus pallidus hyperintensities on MRI to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.140 | ALDH5A1 | Zornitza Stark Classified gene: ALDH5A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.140 | ALDH5A1 | Zornitza Stark Gene: aldh5a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.139 | ALDH5A1 | Zornitza Stark reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.133 | ALDH5A1 |
Shekeeb Mohammad gene: ALDH5A1 was added gene: ALDH5A1 was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH5A1 were set to 17438226; 38499966 Phenotypes for gene: ALDH5A1 were set to epilepsy; paroxysmal exercise induced dyskinesia; globus pallidus hyperintensities on MRI Review for gene: ALDH5A1 was set to GREEN gene: ALDH5A1 was marked as current diagnostic Added comment: Reported cases with paroyxsmal dyskinesia; exercise induced current patient under my care with isolated paroxysmal dyskinesia without epilepsy with confirmed pathogenic variants in ALDH5A1 and supportive MRI changes. This is an important differential for Paroxysmal dyskinesia with globus pallidus changes (in addition to ECHS1 and pyruvate dehydrogenase deficiency) Sources: Literature |
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