Pyruvate dehydrogenase (PDH) deficiency
Gene: LIPT1
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: LIPT1; 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
LIPOYLTRANSFERASE 1 DEFICIENCY, 616299
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Confirmed on OMIM.Created: 10 Feb 2016, 12:36 p.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.
Created: 10 Feb 2016, 12:35 p.m.
Phenotypes for gene: LIPT1 were changed from LIPOYLTRANSFERASE 1 DEFICIENCY, 616299 to LIPOYLTRANSFERASE 1 DEFICIENCY OMIM:616299; lipoyl transferase 1 deficiency MONDO:0014576
gene: LIPT1 was added gene: LIPT1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPT1 were set to LIPOYLTRANSFERASE 1 DEFICIENCY, 616299