| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary ataxia with onset in adulthood v2.147 | NOP56_GGCCTG | Arina Puzriakova commented on STR: NOP56_GGCCTG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.125 | NOP56_GGCCTG | Arina Puzriakova Phenotypes for STR: NOP56_GGCCTG were changed from Spinocerebellar ataxia 36 614153 to Spinocerebellar ataxia 36, OMIM:614153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.124 | NOP56 | Arina Puzriakova Phenotypes for gene: NOP56 were changed from Spinocerebellarataxia36,614153 to Spinocerebellar ataxia 36, OMIM:614153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.194 | NOP56_GGCCTG | Louise Daugherty commented on STR: NOP56_GGCCTG: 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 | NOP56_GGCCTG | Louise Daugherty Source London North GLH was added to STR: NOP56_GGCCTG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.175 | NOP56 | Louise Daugherty Classified gene: NOP56 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.175 | NOP56 | Louise Daugherty Gene: nop56 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.174 | NOP56 | Louise Daugherty changed review comment from: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group; to: Review and rating submitted byJames Polke, on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.174 | NOP56 | Louise Daugherty edited their review of gene: NOP56: 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 James Polke on behalf of London North GLH for GMS Neurology specialist test group relates to the STR and not the gene entity (and is indicated in his 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 | NOP56_GGCCTG | Louise Daugherty commented on STR: NOP56_GGCCTG: 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 v1.14 | NOP56 | Louise Daugherty reviewed gene: NOP56: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.13 | NOP56 | Louise Daugherty Source London North GMS was added to NOP56. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.12 | NOP56 | Louise Daugherty Source NHS GMS was added to NOP56. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.11 | NOP56 | James Polke reviewed gene: NOP56: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.10 | NOP56 |
Louise Daugherty Source Expert Review Green was added to NOP56. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Hereditary ataxia with onset in adulthood v1.6 | NOP56_GGCCTG | Louise Daugherty commented on STR: NOP56_GGCCTG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Multiple reports in the lit - requires STR reporting, no evidence for SNVs. Do you report variants in this gene as part of your current diagnostic practice? No | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.4 | NOP56_GGCCTG | Louise Daugherty Source Wessex and West Midlands GLH was added to STR: NOP56_GGCCTG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.3 | NOP56_GGCCTG |
Louise Daugherty Source NHS GMS was added to STR: NOP56_GGCCTG. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Hereditary ataxia with onset in adulthood v0.29 | NOP56_GGCCTG | Louise Daugherty Classified STR: NOP56_GGCCTG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.29 | NOP56_GGCCTG | Louise Daugherty Str: nop56_ggcctg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.28 | NOP56_GGCCTG |
Louise Daugherty STR: NOP56_GGCCTG was added STR: NOP56_GGCCTG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: NOP56_GGCCTG. Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: NOP56_GGCCTG were set to Spinocerebellar ataxia 36 614153 Review for STR: NOP56_GGCCTG was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia 1.148 Sources: Expert list |
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| Hereditary ataxia with onset in adulthood v0.5 | NOP56 |
Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: NOP56. Tag currently-ngs-unreportable tag was added to gene: NOP56. |
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| Hereditary ataxia with onset in adulthood v0.2 | NOP56 |
Eleanor Williams gene: NOP56 was added gene: NOP56 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: NOP56 was set to Other - please specifiy in evaluation comments Phenotypes for gene: NOP56 were set to Spinocerebellarataxia36,614153 Mode of pathogenicity for gene: NOP56 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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