Mitochondrial disorders
Gene: PDHA1
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
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.
Victorian Clinical Genetics Services was added to PDHA1. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency, 312170; Leigh syndrome, X-linked, 308930
Mode of inheritance for PDHA1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
PDHA1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen