| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disorder with complex V deficiency v2.14 | ATP5E | Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ATP5E. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v2.14 | ATP5E | Sarah Leigh Publications for gene: ATP5E were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v2.13 | ATP5E | Sarah Leigh Phenotypes for gene: ATP5E were changed from ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053; mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v2.12 | ATP5E | Sarah Leigh reviewed gene: ATP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 34954817, 20566710; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.25 | ATP5E | Ellen McDonagh Marked gene: ATP5E as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.25 | ATP5E | 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 | ATP5E | Ellen McDonagh Gene: atp5e has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.22 | ATP5E | Carl Fratter reviewed gene: ATP5E: Rating: AMBER; Mode of pathogenicity: ; Publications: 20566710, 25954304; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.10 | ATP5E | Ellen McDonagh Classified gene: ATP5E as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.10 | ATP5E | 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 v0.10 | ATP5E | Ellen McDonagh Gene: atp5e has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.3 | ATP5E | Ivone Leong Tag new-gene-name tag was added to gene: ATP5E. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.3 | ATP5E | Ivone Leong commented on gene: ATP5E: ATP5E has a new gene name: ATP5F1E | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.3 | ATP5E | Ivone Leong reviewed gene: ATP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.2 | ATP5E |
Ivone Leong gene: ATP5E was added gene: ATP5E was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATP5E was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP5E were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 |
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