Pyruvate dehydrogenase (PDH) deficiency
Gene: PDHB
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: PDHB; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.Created: 1 Feb 2019, 2:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111
Publications
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, 11:22 a.m.
Phenotypes for gene: PDHB were changed from PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY OMIM:614111; pyruvate dehydrogenase E1-beta deficiency MONDO:0013580 to Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111
Phenotypes for gene: PDHB were changed from PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111 to PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY OMIM:614111; pyruvate dehydrogenase E1-beta deficiency MONDO:0013580
gene: PDHB was added gene: PDHB was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDHB were set to 18164639; 15138885; 19924563 Phenotypes for gene: PDHB were set to PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111