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| Hereditary ataxia with onset in adulthood v2.147 | ATXN3_CAG | Eleanor Williams commented on STR: ATXN3_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.147 | ATXN3 | Eleanor Williams Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.147 | ATXN3 | Eleanor Williams Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.147 | ATXN3 | Eleanor Williams commented on gene: ATXN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.145 | ATXN3_CAG | Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.102 | ATXN3_CAG | Arina Puzriakova Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease, OMIM:109150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.101 | ATXN3 | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.101 | ATXN3 | Arina Puzriakova Mode of inheritance for gene: ATXN3 was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.100 | ATXN3 | Arina Puzriakova Phenotypes for gene: ATXN3 were changed from Machado-Joseph disease, 109150 to Machado-Joseph disease, OMIM:109150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.194 | ATXN3_CAG | Louise Daugherty commented on STR: ATXN3_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.178 | ATXN3_CAG | Louise Daugherty Source London North GLH was added to STR: ATXN3_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.177 | ATXN3_CAG | Louise Daugherty Source NHS GMS was added to STR: ATXN3_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.176 | ATXN3_CAG | Louise Daugherty Source Wessex and West Midlands GLH was added to STR: ATXN3_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.155 | ATXN3 | Louise Daugherty edited their review of gene: ATXN3: Added comment: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group. The GREEN review from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH relates to the STR and not the gene entity (and is indicated in her comments), as there are no SNVs for this gene being associated to the disorder, this gene is rated RED.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.14 | ATXN3_CAG | Louise Daugherty commented on STR: ATXN3_CAG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.9 | ATXN3 | Louise Daugherty Added phenotypes Machado-Joseph disease, 109150 for gene: ATXN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.8 | ATXN3 | Louise Daugherty reviewed gene: ATXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.7 | ATXN3 | Tracy Lester reviewed gene: ATXN3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Machado-Joseph disease, 109150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.2 | ATXN3 | Louise Daugherty Source NHS GMS was added to ATXN3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.1 | ATXN3 | Louise Daugherty Source Wessex and West Midlands GLH was added to ATXN3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.17 | ATXN3_CAG | Louise Daugherty Classified STR: ATXN3_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.17 | ATXN3_CAG | Louise Daugherty Str: atxn3_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.16 | ATXN3_CAG |
Louise Daugherty STR: ATXN3_CAG was added STR: ATXN3_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: ATXN3_CAG. Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150 Added comment: Source PanelApp panels : Hereditary ataxia 1.148 Sources: Expert list |
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| Hereditary ataxia with onset in adulthood v0.5 | ATXN3 |
Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: ATXN3. Tag currently-ngs-unreportable tag was added to gene: ATXN3. |
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| Hereditary ataxia with onset in adulthood v0.2 | ATXN3 |
Eleanor Williams gene: ATXN3 was added gene: ATXN3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATXN3 was set to Unknown Mode of pathogenicity for gene: ATXN3 was set to Other - please provide details in the comments |
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