CRLS1

cardiolipin synthase 1
OMIM: 608188, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CRLS1 in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 57, MIM# 620167

Green CRLS1 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.1085

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    Phenotypes
    • Combined oxidative phosphorylation deficiency 57, MIM# 620167

    Green CRLS1 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.238

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 57, MIM# 620167

    Green CRLS1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 57, MIM# 620167

    Amber CRLS1 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 57, MIM# 620167