Mitochondrial disorders
Gene: SLC25A26EnsemblGeneIds (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.
Shamima Rahman (UCL Institute of Child Health)
single mutation report in literatureCreated: 7 Feb 2016, 10:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- 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.
- OMIM
- 611037
- Clinvar variants
- Variants in SLC25A26
- Penetrance
- Complete
- Publications
-
- PMID: 26522469
- Panels with this gene
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to SLC25A26. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SLC25A26 were set to 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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Shamima Rahman (UCL Institute of Child Health)SLC25A26 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list
Created
Shamima Rahman (UCL Institute of Child Health)SLC25A26 was created by [email protected]