Mitochondrial disorders
Gene: SLC25A26Comment 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.
single mutation report in literatureCreated: 7 Feb 2016, 10:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to SLC25A26. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
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.
This gene has been classified as Amber List (Moderate Evidence).
SLC25A26 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list
SLC25A26 was created by [email protected]