Congenital diaphragmatic hernia
Gene: LONP1

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

1 review

Seb Lunke (Victorian Clinical Genetics Services)

Red List (low evidence)

LONP1 described as potential new risk factor for CDH. Putative disruptive variants are enriched by approx a factor 10 fold, but remain rare (up to 3% of studied CDH cohort). Segregation studies in 5 families showed incomplete penetrance, at ~50%. A mouse model with lung specific know-out had impaired lung development, but het mice unaffected.
Sources: Literature
Created: 4 Oct 2021, 4:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Congenital diaphragmatic hernia

Publications

34547244

Created: 4 Oct 2021, 4:42 a.m.

Panel version: 1.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Literature

Phenotypes

Congenital diaphragmatic hernia

OMIM

605490

Clinvar variants

Variants in LONP1

Penetrance

Incomplete

Publications

34547244

Panels with this gene

History Filter Activity

4 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: lonp1 has been classified as Red List (Low Evidence).

4 Oct 2021, Gel status: 1

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