Likely inborn error of metabolism - targeted testing not possible
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
Ellen McDonagh: Comment on mode of pathogenici
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
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