Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Mitochondrial disorders v2.92 | FXN_GAA | Sarah Leigh commented on STR: FXN_GAA: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v2.89 | FXN_GAA | Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v2.59 | FXN_GAA | Arina Puzriakova Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.414 | FXN_GAA | Sarah Leigh Classified STR: FXN_GAA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.414 | FXN_GAA | Sarah Leigh Added comment: Comment on list classification: FXN_GAA is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Friedreich’s ataxia, which is technically a mitochondrial disorder, but the phenotype is quite different to other mitochondrial conditions. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.414 | FXN_GAA | Sarah Leigh Str: fxn_gaa has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.74 | FXN_GAA | Arianna Tucci Phenotypes for STR: FXN_GAA were changed from to Friedreich ataxia 229300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.73 | FXN_GAA | Louise Daugherty Tag STR tag was added to STR: FXN_GAA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.73 | FXN_GAA | Arianna Tucci Marked STR: FXN_GAA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.73 | FXN_GAA | Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.73 | FXN_GAA | Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.73 | FXN_GAA | Arianna Tucci Classified STR: FXN_GAA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.73 | FXN_GAA | Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.72 | FXN_GAA |
Arianna Tucci STR: FXN_GAA was added STR: FXN_GAA was added to Mitochondrial disorders. Sources: Expert Review Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal Review for STR: FXN_GAA was set to GREEN Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results Sources: Expert Review |