1. Genes and Genomic Entities
  2. SLC25A20

SLC25A20

solute carrier family 25 member 20
OMIM: 613698, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green SLC25A20 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Carnitine-acylcarnitine translocase deficiency 212138
Green SLC25A20 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
  • Literature
Phenotypes
  • Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)
  • Carnitine-acylcarnitine translocase deficiency 212138
Green SLC25A20 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
    • NHS GMS
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Carnitine-acylcarnitine translocase deficiency 212138
    • Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)
    Red SLC25A20 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 Red
    Phenotypes
    • Carnitine-acylcarnitine translocase deficiency, 212138
    Green SLC25A20 in Fetal anomalies


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

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
    Green SLC25A20 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
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY 212138
    Red SLC25A20 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.554
    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 Red
    Phenotypes
    • CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
    Amber SLC25A20 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
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Carnitine-acylcarnitine translocase deficiency, OMIM:212138
    • carnitine-acylcarnitine translocase deficiency, MONDO:0008918
    Tags
    • Q3_23_promote_green
    Green SLC25A20 in Paediatric or syndromic cardiomyopathy


    Version 3.47
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • MetBioNet
    • Expert Review Green
    • MetBioNet
    • South West GLH
    • Expert Review Green
    Phenotypes
    • Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia
    • Carnitine-acylcarnitine translocase deficiency 212138
    • Carnitine acylcarnitines translocase deficiency CAT
    • HCM, DCM
    • Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)
    Red SLC25A20 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 SLC25A20 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Carnitine-acylcarnitine translocase deficiency, 212138