Cataract
Gene: LONP1
LONP1 (lon peptidase 1, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000196365
EnsemblGeneIds (GRCh37): ENSG00000196365
OMIM: 605490, Gene2Phenotype
LONP1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000196365
EnsemblGeneIds (GRCh37): ENSG00000196365
OMIM: 605490, Gene2Phenotype
LONP1 is in 10 panels
1 review
Naomi Baker (Victorian Clinical Genetics Services)
Cataract is a common feature of CODAS (cerebral, ocular, dental, auricular, and skeletal anomalies) syndrome, which results from biallelic LONP1 mutations. One review of patients with infantile cataract identified a biallelic LONP1 mutation in a patient who was otherwise healthy (PMID: 29408517).
Sources: LiteratureCreated: 8 Jul 2020, 6:52 a.m. | Last Modified: 8 Jul 2020, 6:53 a.m.
Panel Version: 0.201
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CODAS syndrome MIM# 600373
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- CODAS syndrome MIM# 600373
- OMIM
- 605490
- Clinvar variants
- Variants in LONP1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
8 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lonp1 has been classified as Green List (High Evidence).
8 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lonp1 has been classified as Green List (High Evidence).
8 Jul 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Naomi Baker (Victorian Clinical Genetics Services)gene: LONP1 was added gene: LONP1 was added to Cataract. Sources: Literature Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LONP1 were set to PMID: 25574826; 29408517. Phenotypes for gene: LONP1 were set to CODAS syndrome MIM# 600373 Penetrance for gene: LONP1 were set to Complete Review for gene: LONP1 was set to GREEN