Fetal anomalies
Gene: LONP1

LONP1 (lon peptidase 1, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000196365
EnsemblGeneIds (GRCh37): ENSG00000196365
OMIM: 605490, Gene2Phenotype
LONP1 is in 11 panels

4 reviews

Zornitza Stark (Australian Genomics)

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.

Note bi-allelic variants are associated with CODAS syndrome.
Created: 11 Oct 2021, 9:19 a.m. | Last Modified: 11 Oct 2021, 9:19 a.m.

Panel Version: 1.720

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital diaphragmatic hernia

Publications

34547244

Created: 11 Oct 2021, 9:19 a.m.
Last Modified: 11 Oct 2021, 9:19 a.m.
Panel version: 1.720

Arina Puzriakova (Genomics England Curator)

Added 'watchlist_moi' tag to monitor recently reported association with congenital diaphragmatic hernia as highlighted in review by Zornitza Stark (Australian Genomics)
Created: 29 Jul 2022, 12:32 p.m. | Last Modified: 29 Jul 2022, 12:32 p.m.

Panel Version: 1.879

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.

Panel Version: 1.836

Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 2:44 p.m. | Last Modified: 1 Feb 2021, 2:44 p.m.

Panel Version: 1.443

Created: 1 Feb 2021, 2:44 p.m.
Last Modified: 1 Feb 2021, 2:44 p.m.
Panel version: 1.879

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Created: 28 Jan 2021, 5:43 p.m. | Last Modified: 28 Jan 2021, 5:43 p.m.

Panel Version: 1.214

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CODAS syndrome

Created: 28 Jan 2021, 5:43 p.m.
Last Modified: 28 Jan 2021, 5:43 p.m.
Panel version: 1.214

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for CODAS SYNDROME
Created: 11 Dec 2018, 9:05 a.m.

In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
PAGE DD-Gene2Phenotype

Phenotypes

CODAS syndrome, OMIM:600373
CODAS syndrome, MONDO:0010879

Tags

watchlist_moi

OMIM

605490

Clinvar variants

Variants in LONP1

Penetrance

None

Panels with this gene