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  2. Likely inborn error of metabolism
  3. SLC25A26
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Likely inborn error of metabolism

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

2 reviews

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.
Created: 15 Feb 2016, 4:45 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.309

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

Created: 7 Feb 2016, 10:14 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.32

Details

Mode of Inheritance
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
OMIM
611037
Clinvar variants
Variants in SLC25A26
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added 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 for gene: SLC25A26 Publications for gene SLC25A26 were changed from PMID: 26522469 to 26522469

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SLC25A26 was added gene: SLC25A26 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A26 were set to PMID: 26522469 Phenotypes for gene: SLC25A26 were set to 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