Cerebral Palsy
Gene: PDHA1EnsemblGeneIds (GRCh38): ENSG00000131828
EnsemblGeneIds (GRCh37): ENSG00000131828
OMIM: 300502, Gene2Phenotype
PDHA1 is in 18 panels
2 reviews
Clare van Eyk (University of Adelaide)
2 additional individuals reported (1 het female, 1 hemi male) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.Created: 24 Jun 2024, 6:52 a.m. | Last Modified: 24 Jun 2024, 6:52 a.m.
Panel Version: 1.294
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
- PMID: 38693247
Luisa Weiss (University of Adelaide)
2 patients in 1 large CP cohort presented with heterozygous likely pathogenic missense mutations, one of them confirmed de novo.
In an older case report (PMID:10486093) two unrelated girls were presented with cerebral palsy which were found to harbor heterozygous PDHA mutations. In one case, parental DNA wasn't analyzed, in the other case the mutation wasn't found in the healthy mother and the healthy brother of the patient. Both girls showed skewed X-Inactivation.
Note that in X-linked PDH deficiency it has been shown that a high proportion of heterozygous females manifest severe symptoms.
Sources: LiteratureCreated: 27 Jun 2023, 3:18 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
- 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PDHA1 were set to 33528536; 10486093
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pdha1 has been classified as Green List (High Evidence).
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
Luisa Weiss (University of Adelaide)gene: PDHA1 was added gene: PDHA1 was added to Cerebral Palsy. 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 33528536; 10486093 Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency MIM#312170 Review for gene: PDHA1 was set to GREEN