1. Genes and Genomic Entities
  2. LONP1

LONP1

lon peptidase 1, mitochondrial
OMIM: 605490, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green LONP1 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CODAS syndrome, 600373
Green LONP1 in Pyruvate dehydrogenase (PDH) deficiency


Version 1.36
Latest signed off version: v1.2 (17 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • CODAS syndrome OMIM:600373
  • CODAS syndrome MONDO:0010879
Green LONP1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.65
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373
    Green LONP1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373)
    Green LONP1 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373)
    Green LONP1 in Possible mitochondrial disorder - nuclear genes


    Version 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • CODAS syndrome, 600373
    Green LONP1 in Fetal anomalies


    Version 3.169
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • CODAS syndrome, OMIM:600373
    • CODAS syndrome, MONDO:0010879
    Tags
    • watchlist_moi
    Green LONP1 in DDG2P


    Version 3.90
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • CODAS SYNDROME 600373
    Green LONP1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.557
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • CODAS syndrome, 600373
    • Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome
    Green LONP1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.169
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert list
    Phenotypes
    • CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373)
    Red LONP1 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.78
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green LONP1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • CODAS syndrome, 600373