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| Hereditary ataxia with onset in adulthood v2.8 | ATXN8 | Eleanor Williams Tag ensembl_ids_known_missing tag was added to gene: ATXN8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.8 | ATXN8 | Eleanor Williams commented on gene: ATXN8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.188 | ATXN8 | Louise Daugherty edited their review of gene: ATXN8: Added comment: Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.187 | ATXN8 |
Louise Daugherty Source Expert Review Red was added to ATXN8. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Hereditary ataxia with onset in adulthood v1.155 | ATXN8 | Louise Daugherty edited their review of gene: ATXN8: Added comment: added tags nucleotide-repeat-expansion and currently-ngs-unreportable; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.155 | ATXN8 | Louise Daugherty Classified gene: ATXN8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.155 | ATXN8 |
Louise Daugherty Added comment: Comment on list classification: The gene was added via completed template from expert review for Neurology Test Group but due to the review comments Downgraded to Amber from expert review Green. This potentially is a new STR and if so, needs added as a STR entity, not Gene entity. Note there is no ENSG ID for this gene for either GRCh38 or GRCh37 so we need to make sure Cellbase has updates |
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| Hereditary ataxia with onset in adulthood v1.155 | ATXN8 | Louise Daugherty Gene: atxn8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.14 | ATXN8 | Louise Daugherty reviewed gene: ATXN8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.13 | ATXN8 | Louise Daugherty Source London North GMS was added to ATXN8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.12 | ATXN8 | Louise Daugherty Source NHS GMS was added to ATXN8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.11 | ATXN8 | James Polke reviewed gene: ATXN8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.10 | ATXN8 |
Louise Daugherty Source Expert Review Green was added to ATXN8. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Hereditary ataxia with onset in adulthood v0.5 | ATXN8 |
Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: ATXN8. Tag currently-ngs-unreportable tag was added to gene: ATXN8. |
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| Hereditary ataxia with onset in adulthood v0.2 | ATXN8 |
Eleanor Williams gene: ATXN8 was added gene: ATXN8 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATXN8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN8 were set to 10192387 Phenotypes for gene: ATXN8 were set to Spinocerebellar ataxia 8 608768 Mode of pathogenicity for gene: ATXN8 was set to Other - please provide details in the comments |
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