Activity
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17 actions
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| Hereditary ataxia with onset in adulthood v7.15 | BEAN1_TGGAA | Sarah Leigh Tag STR tag was added to STR: BEAN1_TGGAA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v7.15 | BEAN1_TGGAA | Sarah Leigh commented on STR: BEAN1_TGGAA: The repeat sequence TAAAA in BEAN1 is benign and seen in healthy controls. Although the TAAAA repeat is expanded in patients, it is the TGGAA repeat that is pathogenic repeats. The TGGAA repeat is not seen in healthy controls (PMID: 19878914). A further pathogenic repeat was also seen in two cases [TCAC (TGGAA)exp(TAGAA)exp(TAAAA TAGAA)exp] (PMID: 19878914). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v7.15 | BEAN1_TGGAA |
Sarah Leigh commented on STR: BEAN1_TGGAA: BEAN1 transcribed from the forward strand. BEAN1_TGGAA is on https://gnomad.broadinstitute.org/short-tandem-repeat/SAMD12?dataset=gnomad_r4 BEAN1_TGGAA is on https://stripy.org/database BEAN1_TGGAA is DRAGON 4.02 The coordinates of the sequence repeats shown above were obtained from https://gnomad.broadinstitute.org/short-tandem-repeat/SAMD12?dataset=gnomad_r4 the coordinates were the same on DRAGON 4.02. The coordinates from https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 were 16:66490398-66490453 (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 |
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| Hereditary ataxia with onset in adulthood v7.15 | BEAN1_TGGAA |
Sarah Leigh STR: BEAN1_TGGAA was added STR: BEAN1_TGGAA was added to Hereditary ataxia with onset in adulthood. Sources: Literature NGS Not Validated tags were added to STR: BEAN1_TGGAA. Mode of inheritance for STR: BEAN1_TGGAA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for STR: BEAN1_TGGAA were set to 19878914 Phenotypes for STR: BEAN1_TGGAA were set to Spinocerebellar ataxia 31, OMIM:117210; spinocerebellar ataxia type 31, MONDO:0007296 Review for STR: BEAN1_TGGAA was set to GREEN Added comment: Sources: Literature |
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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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