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  2. Skeletal Dysplasia_Fetal
  3. LONP1
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Skeletal Dysplasia_Fetal

Gene: LONP1

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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Prenatal identification of shortened long bones reported.
Sources: Literature
Created: 10 Nov 2022, 12:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CODAS syndrome - MIM#600373

Publications

Created: 10 Nov 2022, 12:25 a.m.

Panel version: 0.177

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CODAS syndrome - MIM#600373
OMIM
605490
Clinvar variants
Variants in LONP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lonp1 has been classified as Green List (High Evidence).

10 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lonp1 has been classified as Green List (High Evidence).

10 Nov 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: LONP1 was added gene: LONP1 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LONP1 were set to PMID: 25574826 Phenotypes for gene: LONP1 were set to CODAS syndrome - MIM#600373 Review for gene: LONP1 was set to GREEN