Pyruvate dehydrogenase (PDH) deficiency

Gene: LONP1

Green List (high evidence)

LONP1 (lon peptidase 1, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000196365
EnsemblGeneIds (GRCh37): ENSG00000196365
OMIM: 605490, Gene2Phenotype
LONP1 is in 12 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

1 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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