Activity
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| Hereditary ataxia with onset in adulthood v7.20 | DAB1_ATTTC | Sarah Leigh Tag nested STR was removed from STR: DAB1_ATTTC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v7.17 | DAB1_ATTTC | Sarah Leigh Tag nested STR tag was added to STR: DAB1_ATTTC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v7.17 | DAB1_ATTTC |
Sarah Leigh changed review comment from: This is a Nested STR. Pathogenicity is caused by the inclusion of ATTTC repeat (PMID: 29939198; 28686858) within the reference ATTTT repeat. PMID: 28686858 outlined that the pathogenic confirmation of repeats was: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90].; to: This is a Nested STR. Pathogenicity is caused by the inclusion of ATTTC repeat (PMID: 29939198; 28686858) within the reference ATTTT repeat. PMID: 28686858 outlined that the pathogenic confirmation of repeats was: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90]. Note that DRAGEN 4.02 lists DAB1_ATTTT and not the ATTTC repeat. |
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| Hereditary ataxia with onset in adulthood v7.17 | DAB1_ATTTC | Sarah Leigh commented on STR: DAB1_ATTTC: This is a Nested STR. Pathogenicity is caused by the inclusion of ATTTC repeat (PMID: 29939198; 28686858) within the reference ATTTT repeat. PMID: 28686858 outlined that the pathogenic confirmation of repeats was: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90]. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v7.17 | DAB1_ATTTC |
Sarah Leigh STR: DAB1_ATTTC was added STR: DAB1_ATTTC was added to Hereditary ataxia with onset in adulthood. Sources: Literature STR, NGS Not Validated tags were added to STR: DAB1_ATTTC. Mode of inheritance for STR: DAB1_ATTTC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for STR: DAB1_ATTTC were set to 29939198; 28686858 Phenotypes for STR: DAB1_ATTTC were set to Spinocerebellar ataxia 37, OMIM: 615945 Review for STR: DAB1_ATTTC was set to GREEN Added comment: DAB1 is transcribed from the reverse strand, which means that the repeated sequence is the reverse compliment of the forward strand sequence. DAB1_ATTTC is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 DAB1_ATTTC is on https://stripy.org/database DAB1_ATTTT is on DRAGON 4.02. The coordinates of the sequence repeats shown above were the same on: https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 https://stripy.org/database were 8:118366815-118366913 (hg38) and DRAGON 4.02 The non-pathogenic and pathogenic ranges of the sequence repeats shown above were obtained from: https://stripy.org/database 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 Sources: Literature |
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