| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disorder with complex I deficiency v0.7 | ECSIT | Ellen McDonagh Marked gene: ECSIT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.7 | ECSIT | Ellen McDonagh Added comment: Comment when marking as ready: Demoted from Green to Red after discussion on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.7 | ECSIT | Ellen McDonagh Gene: ecsit has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.7 | ECSIT | Ellen McDonagh Classified gene: ECSIT as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.7 | ECSIT | Ellen McDonagh Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.7 | ECSIT | Ellen McDonagh Gene: ecsit has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.3 | ECSIT | Ivone Leong reviewed gene: ECSIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex I deficiency v0.2 | ECSIT |
Ivone Leong gene: ECSIT was added gene: ECSIT was added to Mitochondrial disorder with complex I deficiency. 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 |
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