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| Hereditary ataxia with onset in adulthood v1.188 | BEAN1 | Louise Daugherty commented on gene: BEAN1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.157 | BEAN1 | Louise Daugherty commented on gene: BEAN1: New gene added by Wessex and West Midlands GLH and London North GLH. Gene and Green rating to be discussed by the Neurology Test Group in July 2019 - since this relates to repeat STR entity and not a gene entity. BEAN1 STR has not yet been validated by the pipeline. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.14 | BEAN1 | Louise Daugherty commented on gene: BEAN1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.13 | BEAN1 | Louise Daugherty Source London North GMS was added to BEAN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.11 | BEAN1 | James Polke reviewed gene: BEAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.9 | BEAN1 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 31, 117210 for gene: BEAN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.8 | BEAN1 | Louise Daugherty reviewed gene: BEAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.7 | BEAN1 | Tracy Lester reviewed gene: BEAN1: 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: Spinocerebellar ataxia 31, 117210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.2 | BEAN1 | Louise Daugherty Source NHS GMS was added to BEAN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.1 | BEAN1 | Louise Daugherty Source Wessex and West Midlands GLH was added to BEAN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.5 | BEAN1 | Eleanor Williams Tag structural-variant tag was added to gene: BEAN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.5 | BEAN1 |
Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: BEAN1. Tag currently-ngs-unreportable tag was added to gene: BEAN1. |
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| Hereditary ataxia with onset in adulthood v0.2 | BEAN1 |
Eleanor Williams gene: BEAN1 was added gene: BEAN1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: BEAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BEAN1 were set to 19878914 Phenotypes for gene: BEAN1 were set to Spinocerebellar ataxia 31 117210 |
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