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| Paroxysmal Dyskinesia v0.22 | PDHA1 | Zornitza Stark Marked gene: PDHA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.22 | PDHA1 | Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.22 | PDHA1 | Zornitza Stark Phenotypes for gene: PDHA1 were changed from Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features); mitochondrial disorder (Leigh syndrome, ataxia); neurodevelopmental disability; epilepsy. to Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170; Paroxysmal dyskinesia (exercise induced or without clear trigger | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.21 | PDHA1 | Zornitza Stark Publications for gene: PDHA1 were set to Barnerias C et al. 2010 Dev Med Child Neurol. 52:e1-e9 (PMID: 2000; 2125); Patel et al. 2012 Mol Genet Metab 105(1):34-43 (PMID: 2207; 9328) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.20 | PDHA1 | Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20002125, 22079328; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170, Paroxysmal dyskinesia (exercise induced or without clear trigger; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.20 | PDHA1 | Zornitza Stark Classified gene: PDHA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.20 | PDHA1 | Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.10 | PDHA1 |
Eunice Chan gene: PDHA1 was added gene: PDHA1 was added to Paroxysmal Dyskinesia. Sources: Expert Review Mode of inheritance for gene: PDHA1 was set to Other Publications for gene: PDHA1 were set to Barnerias C et al. 2010 Dev Med Child Neurol. 52:e1-e9 (PMID: 2000; 2125); Patel et al. 2012 Mol Genet Metab 105(1):34-43 (PMID: 2207; 9328) Phenotypes for gene: PDHA1 were set to Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features); mitochondrial disorder (Leigh syndrome, ataxia); neurodevelopmental disability; epilepsy. Added comment: Phenotype can be quite broad XLR inheritance - phenotype in females dependent on X-chromosome inactivation patterns May respond to thiamine supplementation Sources: Expert Review |
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