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 1.12

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 1.486

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 Inborn errors of metabolism


Version 2.188
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.53
    Latest signed off version: v1.17 (11 Nov 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Carnitine-acylcarnitine translocase deficiency, 212138

    Green SLC25A20 in Fetal anomalies


    Version 1.736
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY

    Green SLC25A20 in DDG2P


    Version 2.50
    Latest signed off version: v2.2 (13 Feb 2020)

    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

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1378
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY

    Red SLC25A20 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.54
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Carnitine-acylcarnitine translocase deficiency, 212138

    Green SLC25A20 in Cardiomyopathies - including childhood onset


    Version 1.57
    Latest signed off version: v1.4 (19 Feb 2020)

    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 or chorea or related movement disorder


    Version 1.160
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green SLC25A20 in Severe Paediatric Disorders


    Version 1.84

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