Pyruvate dehydrogenase (PDH) deficiency
Gene: PDHA1EnsemblGeneIds (GRCh38): ENSG00000131828
EnsemblGeneIds (GRCh37): ENSG00000131828
OMIM: 300502, Gene2Phenotype
PDHA1 is in 15 panels
4 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: PDHA1; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 2:42 p.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, 312170
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Seems to be X-linked dominant for Pyruvate dehydrogenase E1-alpha deficiency, and hemizygous/X-linked recessive for X-linked Leigh syndrome.Created: 12 Feb 2016, 10:36 a.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.Created: 12 Feb 2016, 10:33 a.m.
Shamima Rahman (UCL Institute of Child Health)
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
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY OMIM:312170
- pyruvate dehydrogenase E1-alpha deficiency MONDO:0010717
- OMIM
- 300502
- Clinvar variants
- Variants in PDHA1
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Severe microcephaly
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PDHA1 were changed from PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170 to PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY OMIM:312170; pyruvate dehydrogenase E1-alpha deficiency MONDO:0010717
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PDHA1 was added gene: PDHA1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS 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) Phenotypes for gene: PDHA1 were set to PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170