Bilateral congenital or childhood onset cataracts
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
1 review
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from Red to Green based on previous review.Created: 2 Oct 2019, 1:50 p.m. | Last Modified: 2 Oct 2019, 1:50 p.m.
Panel Version: 1.35
LONP1 is associated with CODAS syndrome on OMIM and probably associated with the same phenotype on Gene2Phenotype. It is a green gene on the ID panel (code 285, version 2.1017), Skeletal dysplasia (code 309, version 1.193) and Inborn errors of metabolism (code 467, version 1.262). There are >3 unrelated cases (PMID: 27878435; 25808063; 26622071; 28148925; 29408517; 25574826) of patients with either CODAS syndrome or just congenital cataracts who have different variants in this gene. Therefore, there is enough evidence to promote this to a green gene.Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:43 p.m.
Panel Version: 1.32
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- CODAS syndrome, 600373
- OMIM
- 605490
- Clinvar variants
- Variants in LONP1
- Penetrance
- None
- Publications
- 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
2 Oct 2019, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: lonp1 has been classified as Green List (High Evidence).
28 Aug 2019, Gel status: 1
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 Cataracts. Sources: Literature,Expert Review Red Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LONP1 were set to 25574826; 26622071; 27878435; 29408517; 25808063; 28148925 Phenotypes for gene: LONP1 were set to CODAS syndrome, 600373