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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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