SLC25A1

solute carrier family 25 member 1
OMIM: 190315, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red SLC25A1 in White matter disorders and cerebral calcification - narrow panel


Version 1.14
Signed off v.1.12 on 2 Mar 2020

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Global Cerebral Hypomyelination

    Red SLC25A1 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.71

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Global Cerebral Hypomyelination

    Green SLC25A1 in Congenital myaesthenic syndrome

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • ?Myasthenic syndrome, congenital, 23, presynaptic
    • 618197

    Green SLC25A1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.414

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
    • Combined D-2- and L-2-hydroxyglutaric aciduria, 615182

    Green SLC25A1 in Inborn errors of metabolism


    Version 2.8
    Signed off v.2.3 on 17 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 Green
    • London North GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Combined D-2- and L-2-hydroxyglutaric aciduria, 615182
    • Disorders of mitochondrial protein transport
    • Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)

    Green SLC25A1 in Possible mitochondrial disorder - nuclear genes


    Version 1.15
    Signed off v.1.13 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • ?Myasthenic syndrome, congenital, 23, presynaptic, 618197
    • Combined D-2- and L-2-hydroxyglutaric aciduria, 615182

    Green SLC25A1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.69
    Signed off v.2.2 on 13 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Combined D-2- and L-2-hydroxyglutaric aciduria

    Green SLC25A1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.73
    Signed off v.3.2 on 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 Green
    • Expert Review
    Phenotypes
    • Combined D-2- and L-2-hydroxyglutaric aciduria 615182

    Green SLC25A1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.6
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Disorders of mitochondrial protein transport
    • Combined D-2- and L-2-hydroxyglutaric aciduria, 615182

    Red SLC25A1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

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

    Green SLC25A1 in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Myasthenic syndrome, congenital, 23, presynaptic, 618197
    • Combined D-2- and L-2-hydroxyglutaric aciduria, 615182