Pyruvate dehydrogenase (PDH) deficiency

Gene: SLC25A26

Green List (high evidence)

SLC25A26 (solute carrier family 25 member 26)
EnsemblGeneIds (GRCh38): ENSG00000144741
EnsemblGeneIds (GRCh37): ENSG00000144741
OMIM: 611037, Gene2Phenotype
SLC25A26 is in 9 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: SLC25A26; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.
Created: 1 Feb 2019, 2:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Two reviewers suggesting that this gene should be green: (Carl Fratter also suggests this should be green). Gene therefore promoted to green.
Created: 15 Mar 2016, 8:46 a.m.
Comment on list classification: One publication with 3 seperate families with different ethnic origins, and functional assays supporting a role for the mutations in resulting in mitochondrial defects. Is a confirmed DD gene for intra-mitochondrial methylation deficiency.
Created: 15 Feb 2016, 4:52 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single mutation report in literature
Created: 7 Feb 2016, 10:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794
OMIM
611037
Clinvar variants
Variants in SLC25A26
Penetrance
None
Panels with this gene

History Filter Activity

1 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: SLC25A26 was added gene: SLC25A26 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A26 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794