Activity
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17 actions
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| Hereditary ataxia with onset in adulthood v7.20 | ATXN8OS_CTG | Sarah Leigh commented on STR: ATXN8OS_CTG: The numbers of ATXN8OS_CTG required for pathogenicity given by https://stripy.org/database are: 2-37 for normal, 38-79 for intermediate and ≥80 for pathogenic and https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 gives the repeats as follows: ≤ 50 for normal, 38 - 79 for intermediate and ≥ 71 for pathogenic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v7.20 | ATXN8OS_CTG |
Sarah Leigh STR: ATXN8OS_CTG was added STR: ATXN8OS_CTG was added to Hereditary ataxia with onset in adulthood. Sources: Literature STR, NGS Not Validated tags were added to STR: ATXN8OS_CTG. Mode of inheritance for STR: ATXN8OS_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for STR: ATXN8OS_CTG were set to 16804541; 10192387 Phenotypes for STR: ATXN8OS_CTG were set to Spinocerebellar ataxia 8, OMIM:608768; spinocerebellar ataxia type 8, MONDO:0012116 Review for STR: ATXN8OS_CTG was set to GREEN Added comment: ATXN8OS transcribed from the forward strand. ATXN8OS_CTG is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 ATXN8OS_CTG is on https://stripy.org/database ATXN8OS_CTG is on DRAGON 4.02. The coordinates of the sequence repeats shown above were obtained from DRAGON 4.02, https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 and https://stripy.org/database were 4:39348424-39348485 (hg38) The non-pathogenic and pathogenic ranges of the sequence repeats shown above were obtained from: https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 There is enough evidence for this STR to be green on this panel. This STR has not been approved by NHS STR working group and is not NGS Not Validated Sources: Literature |
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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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