Pyruvate dehydrogenase (PDH) deficiency
Gene: LONP1
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: LONP1; 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
CODAS syndrome, 600373
Publications
Comment on list classification: Mutations in the gene have been reported in more than 3 unrelated cases of CODAS syndrome in two independent publications, and functional studies support a role in the disease. It is a probable DD gene for CODAS syndrome.Created: 15 Feb 2016, 3:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LONP1 were changed from CODAS syndrome, 600373 to CODAS syndrome OMIM:600373; CODAS syndrome MONDO:0010879
gene: LONP1 was added gene: LONP1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LONP1 were set to 30304514 Phenotypes for gene: LONP1 were set to CODAS syndrome, 600373