Paroxysmal Dyskinesia
Gene: PDHA1EnsemblGeneIds (GRCh38): ENSG00000131828
EnsemblGeneIds (GRCh37): ENSG00000131828
OMIM: 300502, Gene2Phenotype
PDHA1 is in 18 panels
3 reviews
Shekeeb Mohammad (Children's Hospital at Westmead)
Important differential for Exercise induced dyskinesia with bilateral globus pallidus T2W hyperintensities on MRI (other DDx - ALDH5A1, ECHS1 and other pyruvate dehydrogenase genes)Created: 6 Dec 2024, 7:18 p.m. | Last Modified: 6 Dec 2024, 7:18 p.m.
Panel Version: 0.133
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
paroyxsmal exercise induced dyskinesia
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
XLD.Created: 22 Apr 2020, 7:47 a.m. | Last Modified: 22 Apr 2020, 7:47 a.m.
Panel Version: 0.20
Mode of inheritance
Other
Phenotypes
Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170; Paroxysmal dyskinesia (exercise induced or without clear trigger
Publications
Eunice Chan (Royal Children's Hospital)
Phenotype can be quite broad
XLR inheritance - phenotype in females dependent on X-chromosome inactivation patterns
May respond to thiamine supplementation
Sources: Expert ReviewCreated: 22 Apr 2020, 4:54 a.m.
Mode of inheritance
Other
Phenotypes
Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features); mitochondrial disorder (Leigh syndrome, ataxia); neurodevelopmental disability; epilepsy.
Publications
- 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)
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170
- Paroxysmal dyskinesia (exercise induced or without clear trigger
- OMIM
- 300502
- Clinvar variants
- Variants in PDHA1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paroxysmal Dyskinesia
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Microcephaly
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Regression
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Congenital diaphragmatic hernia
- Prepair 500+
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pdha1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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)
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pdha1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eunice Chan (Royal Children's Hospital)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.