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| Hereditary ataxia with onset in adulthood v7.20 | ATXN8OS_CTG | Sarah Leigh commented on STR: ATXN8OS_CTG: The numbers of ATXN8OS_CTG required for pathogenicity given by https://stripy.org/database are: 2-37 for normal, 38-79 for intermediate and ≥80 for pathogenic and https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 gives the repeats as follows: ≤ 50 for normal, 38 - 79 for intermediate and ≥ 71 for pathogenic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v7.20 | ATXN8OS_CTG |
Sarah Leigh STR: ATXN8OS_CTG was added STR: ATXN8OS_CTG was added to Hereditary ataxia with onset in adulthood. Sources: Literature STR, NGS Not Validated tags were added to STR: ATXN8OS_CTG. Mode of inheritance for STR: ATXN8OS_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for STR: ATXN8OS_CTG were set to 16804541; 10192387 Phenotypes for STR: ATXN8OS_CTG were set to Spinocerebellar ataxia 8, OMIM:608768; spinocerebellar ataxia type 8, MONDO:0012116 Review for STR: ATXN8OS_CTG was set to GREEN Added comment: ATXN8OS transcribed from the forward strand. ATXN8OS_CTG is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 ATXN8OS_CTG is on https://stripy.org/database ATXN8OS_CTG is on DRAGON 4.02. The coordinates of the sequence repeats shown above were obtained from DRAGON 4.02, https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 and https://stripy.org/database were 4:39348424-39348485 (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 Sources: Literature |
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