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| 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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| Paroxysmal Dyskinesia v0.25 | ECHS1 | Zornitza Stark Marked gene: ECHS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.25 | ECHS1 | Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.25 | ECHS1 | Zornitza Stark Phenotypes for gene: ECHS1 were changed from early onset Leigh syndrome; later onset Leigh-like syndrome; paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease) to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277; paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.24 | ECHS1 | Zornitza Stark Publications for gene: ECHS1 were set to Olgiati S, Skorvanek M, Quadri M, et al. Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency. Mov Disord 2016; 31:1041–8 (PMID: 2709; 0768); Mahajan A, Constantinou J, Sidiropoulos C. ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention. J Neurol 2017; 264:185–7. (PMID: 2803; 9521) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.23 | ECHS1 | Zornitza Stark reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27090768, 28039521; Phenotypes: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277, paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.23 | ECHS1 | Zornitza Stark Classified gene: ECHS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.23 | ECHS1 | Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.10 | ECHS1 |
Eunice Chan gene: ECHS1 was added gene: ECHS1 was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECHS1 were set to Olgiati S, Skorvanek M, Quadri M, et al. Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency. Mov Disord 2016; 31:1041–8 (PMID: 2709; 0768); Mahajan A, Constantinou J, Sidiropoulos C. ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention. J Neurol 2017; 264:185–7. (PMID: 2803; 9521) Phenotypes for gene: ECHS1 were set to early onset Leigh syndrome; later onset Leigh-like syndrome; paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease) Added comment: PxD phenotype - intermittent episodes of long-duration dystonia or episodes of dystonia induced by sustained exercise Sources: Literature |
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