1. Genes and Genomic Entities
  2. CRLS1

CRLS1

cardiolipin synthase 1
OMIM: 608188, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green CRLS1 in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.4
Latest signed off version: v9.0 (6 May 2026)

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
    • NHS GMS
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 57, OMIM:620167
    Green CRLS1 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 5.4
    Latest signed off version: v5.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 57, OMIM:620167
    Red CRLS1 in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • CRLS1-related mitochondrial disorder
    Green CRLS1 in Monogenic hearing loss


    Level 2: Audiology
    Version 6.10
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 57, OMIM:620167
    Green CRLS1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.4
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 57, OMIM:620167
    Amber CRLS1 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 8.1
    Latest signed off version: v8.0 (6 May 2026)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 57, OMIM:620167