Possible mitochondrial disorder - nuclear genes
Gene: LONP1
LONP1 (lon peptidase 1, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000196365
EnsemblGeneIds (GRCh37): ENSG00000196365
OMIM: 605490, Gene2Phenotype
LONP1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000196365
EnsemblGeneIds (GRCh37): ENSG00000196365
OMIM: 605490, Gene2Phenotype
LONP1 is in 11 panels
3 reviews
Ivone Leong (Genomics England Curator)
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.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CODAS syndrome, 600373
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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- CODAS syndrome, 600373
- OMIM
- 605490
- Clinvar variants
- Variants in LONP1
- Penetrance
- None
- Panels with this gene
-
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
History Filter Activity
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: LONP1 was added gene: LONP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LONP1 were set to CODAS syndrome, 600373