1. Genes and Genomic Entities
  2. SLC25A3

SLC25A3

solute carrier family 25 member 3
OMIM: 600370, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red SLC25A3 in Hypertrophic cardiomyopathy


Level 2: Cardiology
Version 6.4
Latest signed off version: v6.3 (12 Aug 2026)

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 Unknown
    Sources
    • South West GLH
    • Expert Review Red
    • Expert list
    Phenotypes
    • Mitochondrial phosphate carrier deficiency, 610773
    Green SLC25A3 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.645

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
    • Mitochondrial phosphate carrier deficiency 610773
    Green SLC25A3 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.30
    Latest signed off version: v9.29 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial phosphate carrier deficiency, 610773
    • Mitochondrial phosphate carrier deficiency 610773
    • Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
    Green SLC25A3 in Possible mitochondrial disorder, nuclear genes


    Level 2: Mitochondrial
    Version 5.18
    Latest signed off version: v5.17 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial phosphate carrier deficiency, 610773
    Green SLC25A3 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.19
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • Mitochondrial phosphate carrier deficiency, 610773
    Red SLC25A3 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

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