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 5.29
Latest signed off version: v5.0 (30 Apr 2025)

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 8.107
    Latest signed off version: v8.0 (30 Apr 2025)

    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
    • 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 4.27
    Latest signed off version: v4.0 (30 Apr 2025)

    		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 9.51
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  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 Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.20
    Latest signed off version: v7.0 (30 Apr 2025)

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