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Inborn errors of metabolism

Gene: LONP1

Green List (high evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Mutations in the gene have been reported in more than 3 unrelated cases of CODAS syndrome in two independent publications, and functional studies support a role in the disease. It is a probable DD gene for CODAS syndrome.
Created: 15 Feb 2016, 3:11 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373)
OMIM
605490
Clinvar variants
Variants in LONP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) for gene: LONP1 Publications for gene LONP1 were changed from PMID: 25574826; PMID: 25808063 to 25574826; 25808063

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: LONP1 was added gene: LONP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LONP1 were set to PMID: 25574826; PMID: 25808063 Phenotypes for gene: LONP1 were set to CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373)