SLC25A26

solute carrier family 25 member 26
OMIM: 611037, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green SLC25A26 in Pyruvate dehydrogenase (PDH) deficiency


Version 1.29
Signed off v.1.2 on 17 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 OMIM:616794
  • combined oxidative phosphorylation deficiency 28 MONDO:0014775

Green SLC25A26 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.452

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness
  • Combined oxidative phosphorylation deficiency 28
  • intra-mitochondrial methylation deficiency.

Green SLC25A26 in Inborn errors of metabolism


Version 2.111
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
    Phenotypes
    • Combined oxidative phosphorylation deficiency 28
    • intra-mitochondrial methylation deficiency.
    • Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness

    Green SLC25A26 in Possible mitochondrial disorder - nuclear genes


    Version 1.40
    Signed off v.1.17 on 11 Nov 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794

    Red SLC25A26 in Fetal anomalies


    Version 1.641
    Signed off v.1.92 on 21 Aug 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY

    Green SLC25A26 in DDG2P


    Version 2.25
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY

    Amber SLC25A26 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1018
    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 Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY

    Green SLC25A26 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.24
    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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert list
    Phenotypes
    • Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness
    • Combined oxidative phosphorylation deficiency 28
    • intra-mitochondrial methylation deficiency.

    Red SLC25A26 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.90
    Signed off v.1.58 on 6 Oct 2020

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

    Green SLC25A26 in Severe Paediatric Disorders


    Version 1.75

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Combined oxidative phosphorylation deficiency 28, 616794