Dystonia - complex
Gene: PDHA1EnsemblGeneIds (GRCh38): ENSG00000131828
EnsemblGeneIds (GRCh37): ENSG00000131828
OMIM: 300502, Gene2Phenotype
PDHA1 is in 18 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least four cases reported with dystonia as a feature of the condition.
Sources: LiteratureCreated: 6 Apr 2020, 3:59 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Pyruvate dehydrogenase E1-alpha deficiency MIM#312170
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Pyruvate dehydrogenase E1-alpha deficiency MIM#312170
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: pdha1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pdha1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PDHA1 was added gene: PDHA1 was added to Dystonia - complex. Sources: Literature Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PDHA1 were set to 20002125 Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency MIM#312170 Review for gene: PDHA1 was set to GREEN