| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disorder with complex V deficiency v0.25 | ATP5I | Ellen McDonagh Marked gene: ATP5I as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.25 | ATP5I | Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.25 | ATP5I | Ellen McDonagh Gene: atp5i has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.22 | ATP5I | Carl Fratter reviewed gene: ATP5I: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.18 | ATP5I | Ellen McDonagh Classified gene: ATP5I as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.18 | ATP5I | Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.18 | ATP5I | Ellen McDonagh Gene: atp5i has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.3 | ATP5I | Ivone Leong Tag new-gene-name tag was added to gene: ATP5I. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.3 | ATP5I | Ivone Leong commented on gene: ATP5I: ATP5I has a new gene name: ATP5ME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.3 | ATP5I | Ivone Leong reviewed gene: ATP5I: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.2 | ATP5I |
Ivone Leong gene: ATP5I was added gene: ATP5I was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATP5I was set to Unknown Phenotypes for gene: ATP5I were set to No OMIM phenotype |
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