Mitochondrial disease
Gene: LONP1

LONP1 (lon peptidase 1, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000196365
EnsemblGeneIds (GRCh37): ENSG00000196365
OMIM: 605490, Gene2Phenotype
LONP1 is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three unrelated cases described in the literature.
Created: 31 Jan 2020, 1:50 a.m. | Last Modified: 31 Jan 2020, 1:50 a.m.

Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CODAS syndrome, MIM#600373; Mitochondrial cytopathy

Publications

31636596

Created: 31 Jan 2020, 1:50 a.m.
Last Modified: 31 Jan 2020, 1:50 a.m.
Panel version: 0.39

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Three reports for Mitochondrial cytopathy, no genotype-phenotype association
Created: 30 Jan 2020, 10:23 p.m. | Last Modified: 30 Jan 2020, 10:23 p.m.

Panel Version: 0.1050

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CODAS syndrome; Mitochondrial cytopathy

Publications

PMID: 31636596

Created: 30 Jan 2020, 10:23 p.m.
Last Modified: 30 Jan 2020, 10:23 p.m.
Panel version: Imported from Mendeliome panel version 0.1050

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

CODAS syndrome, MIM#600373
Mitochondrial cytopathy

OMIM

605490

Clinvar variants

Variants in LONP1

Penetrance

None

Publications

31636596

Panels with this gene