Possible mitochondrial disorder - nuclear genesGene: ECSIT
Comment on list classification: The evidence underlying this gene-disease was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. It was confirmed that this gene should be Red due to insufficient evidence; no cases have yet been reported in the literature and its role is not yet completely understood.
Created: 29 Mar 2019, 2:39 p.m.
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.
Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
No OMIM phenotype
no mutation reports in literature
Created: 4 Feb 2016, 2:23 p.m.
Gene: ecsit has been classified as Red List (Low Evidence).
Gene: ecsit has been classified as Green List (High Evidence).
gene: ECSIT was added gene: ECSIT was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ECSIT was set to Unknown Phenotypes for gene: ECSIT were set to No OMIM phenotype