| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| NARP syndrome or maternally inherited Leigh syndrome v1.1 | MT-ND6 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NARP syndrome or maternally inherited Leigh syndrome v1.1 | MT-ATP6 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NARP syndrome or maternally inherited Leigh syndrome v1.1 | Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NARP syndrome or maternally inherited Leigh syndrome v1.0 | Sarah Leigh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NARP syndrome or maternally inherited Leigh syndrome v0.3 | Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NARP syndrome or maternally inherited Leigh syndrome v0.2 | MT-ND6 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NARP syndrome or maternally inherited Leigh syndrome v0.2 | MT-ATP6 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NARP syndrome or maternally inherited Leigh syndrome v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NARP syndrome or maternally inherited Leigh syndrome v0.1 | MT-ATP6 | Eleanor Williams commented on gene: MT-ATP6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NARP syndrome or maternally inherited Leigh syndrome v0.1 | MT-ATP6 | Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NARP syndrome or maternally inherited Leigh syndrome v0.1 | MT-ND6 | Eleanor Williams commented on gene: MT-ND6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NARP syndrome or maternally inherited Leigh syndrome v0.1 | MT-ND6 | Eleanor Williams Tag gene-checked tag was added to gene: MT-ND6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NARP syndrome or maternally inherited Leigh syndrome v0.1 | MT-ND6 | Achchuthan Shanmugasundram reviewed gene: MT-ND6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NARP syndrome or maternally inherited Leigh syndrome v0.1 | MT-ATP6 | Achchuthan Shanmugasundram reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NARP syndrome or maternally inherited Leigh syndrome v0.1 | MT-ND6 |
Achchuthan Shanmugasundram gene: MT-ND6 was added gene: MT-ND6 was added to NARP syndrome or maternally inherited Leigh syndrome. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL |
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| NARP syndrome or maternally inherited Leigh syndrome v0.1 | MT-ATP6 |
Achchuthan Shanmugasundram gene: MT-ATP6 was added gene: MT-ATP6 was added to NARP syndrome or maternally inherited Leigh syndrome. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL |
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| NARP syndrome or maternally inherited Leigh syndrome v0.0 |
Achchuthan Shanmugasundram Added Panel NARP syndrome or maternally inherited Leigh syndrome Set list of related panels to R351 Set panel types to: GMS Rare Disease |
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