Pyruvate dehydrogenase (PDH) deficiency
Gene: PDP1
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: PDP1; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 2:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.Created: 12 Feb 2016, 11:33 a.m.
Phenotypes for gene: PDP1 were changed from PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782 to PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY OMIM:608782; pyruvate dehydrogenase phosphatase deficiency MONDO:0012120
gene: PDP1 was added gene: PDP1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDP1 were set to PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782