| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Neuropathy v2.61 | GAA | Bryony Thompson Marked gene: GAA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.61 | GAA | Bryony Thompson Gene: gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.61 | GAA | Bryony Thompson Classified gene: GAA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.61 | GAA | Bryony Thompson Gene: gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.60 | GAA | Bryony Thompson Classified gene: GAA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.60 | GAA | Bryony Thompson Gene: gaa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.59 | GAA |
Bryony Thompson gene: GAA was added gene: GAA was added to Hereditary Neuropathy. Sources: Literature Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAA were set to 39731073; 34864681; 25835646 Phenotypes for gene: GAA were set to glycogen storage disease II, MONDO:0009290 Review for gene: GAA was set to GREEN Added comment: Three studies report nine individuals from nine families with biallelic GAA loss‑of‑function variants presenting with peripheral neuropathy (small‑fibre or large‑fibre) as part of Pompe disease. PMID 39731073 describes six neuropathy patients from four independent families, PMID 25835646 adds two families with biopsy‑confirmed small‑fibre neuropathy, and PMID 34864681 reports one case of large‑fibre sensory neuropathy. Sources: Literature |
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| Hereditary Neuropathy v2.0 | FXN_FRDA_GAA | STR FXN_FRDA_GAA: gene migrated from ENSG00000165060 to ENSG00000165060 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.25 | FXN_FRDA_GAA | Bryony Thompson Marked STR: FXN_FRDA_GAA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.25 | FXN_FRDA_GAA | Bryony Thompson Str: fxn_frda_gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.25 | FXN_FRDA_GAA | Bryony Thompson Classified STR: FXN_FRDA_GAA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.25 | FXN_FRDA_GAA | Bryony Thompson Str: fxn_frda_gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.24 | FXN_FRDA_GAA |
Bryony Thompson STR: FXN_FRDA_GAA was added STR: FXN_FRDA_GAA was added to Hereditary Neuropathy - complex. Sources: Expert list Mode of inheritance for STR: FXN_FRDA_GAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: FXN_FRDA_GAA were set to 20301458; 8596916 Phenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300 Review for STR: FXN_FRDA_GAA was set to GREEN STR: FXN_FRDA_GAA was marked as clinically relevant STR: FXN_FRDA_GAA was marked as current diagnostic Added comment: NM_000144.4:c.165+1340GAA[X] Loss of function is the mechanism of disease Normal: 5-33 repeats Mutable normal (premutation): 34-65 repeats Borderline: 44-66 repeats Full-penetrance: ≥66 repeats Sources: Expert list |
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