SLC25A4

solute carrier family 25 member 4
OMIM: 103220, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels
No list SLC25A4 in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.15

review Not set
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Molecular autopsy
  • Familial Hypertrophic Cardiomyopathy
  • HCM
Tags
  • curated_removed
Green SLC25A4 in White matter disorders and cerebral calcification - narrow panel


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Mitochondrial Leukoencephalopathy
    Red SLC25A4 in Hypertrophic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 4.13
    Latest signed off version: v4.8 (1 May 2024)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • North West GLH
    • Literature
    Phenotypes
    • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418)
    • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184)
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283)
    • Hypertrophic cardiomyopathy
    Green SLC25A4 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.180

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184
    • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
    Green SLC25A4 in Mitochondrial DNA maintenance disorder


    Version 3.6
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283
    • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418
    Red SLC25A4 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.7
    Latest signed off version: v6.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • mitochondrial myopathy
    Green SLC25A4 in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.38
    Latest signed off version: v4.37 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184
    Green SLC25A4 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.620

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Disorders of mitochondrial DNA maintenance and integrity
    • Disorders of mitochondrial protein transport
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283
    • Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418
    • Progressive External Ophthalmoplegia with Mitochondrial DNADeletions
    Green SLC25A4 in Likely inborn error of metabolism - targeted testing not possible


    Version 5.8
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Progressive External Ophthalmoplegia with Mitochondrial DNADeletions
    • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Disorders of mitochondrial DNA maintenance and integrity
    • Disorders of mitochondrial protein transport
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283
    • Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418
    Green SLC25A4 in Possible mitochondrial disorder - nuclear genes


    Version 3.106
    Latest signed off version: v3.105 (1 May 2024)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283
    • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418
    Amber SLC25A4 in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
    Green SLC25A4 in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
    • Fontaine progeroid syndrome
    Green SLC25A4 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.9
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) 617184
    • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) 615418
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
    Green SLC25A4 in Paediatric or syndromic cardiomyopathy


    Version 4.7
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Green
    Phenotypes
    • Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418
    • Disorders of mitochondrial protein transport
    • Hypertrophic cardiomyopathy
    • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
    • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283
    • Disorders of mitochondrial DNA maintenance and integrity
    Red SLC25A4 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.4
    Latest signed off version: v4.0 (1 May 2024)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green SLC25A4 in Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283
    • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184