| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary neuropathy v1.353 | APTX |
Louise Daugherty Source Expert Review Green was added to APTX. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Hereditary neuropathy v1.352 | APTX | Louise Daugherty edited their review of gene: APTX: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.340 | APTX | Louise Daugherty Classified gene: APTX as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.340 | APTX | Louise Daugherty Added comment: Comment on list classification: rating changed due to GMS recommendation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.340 | APTX | Louise Daugherty Gene: aptx has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.339 | APTX |
Louise Daugherty changed review comment from: Changed from Green to Red: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy. Extension of panel scope - ataxia with neuropathy. Broader phenotype: Ataxia with oculomotor apraxia; to: Changed from Green to Red: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy. Extension of panel scope - ataxia with neuropathy. Broader phenotype: Ataxia with oculomotor apraxia. R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy. |
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| Hereditary neuropathy v1.339 | APTX | Louise Daugherty edited their review of gene: APTX: Added comment: Changed from Green to Red: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy. Extension of panel scope - ataxia with neuropathy. Broader phenotype: Ataxia with oculomotor apraxia; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.80 | APTX | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.80 | APTX | Louise Daugherty commented on gene: APTX: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.63 | APTX | Louise Daugherty commented on gene: APTX: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.60 | APTX |
Louise Daugherty Added phenotypes Hereditary Neuropathies; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; ATAXIA WITH OCULOMOTOR APRAXIA 1 for gene: APTX Publications for gene APTX were changed from to 11176957 |
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| Hereditary neuropathy v1.58 | APTX | Natalie Forrester reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: 11176957; Phenotypes: Hereditary Neuropathies, ATAXIA WITH OCULOMOTOR APRAXIA 1, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.56 | APTX | Louise Daugherty Source South West GLH was added to APTX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.55 | APTX | Louise Daugherty reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.52 | APTX | James Polke reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.51 | APTX | Louise Daugherty Source NHS GMS was added to APTX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.50 | APTX |
Louise Daugherty Source London North GLH was added to APTX. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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