Activity
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| Intellectual disability v8.162 | THAP11_CAG |
Sarah Leigh commented on STR: THAP11_CAG: PMID: 37148549 - 2 Chinese cases but one case had unaffected father with same number of repeats, PMID: 38113319 - 1 European case but inconclusive due to additional STR. Also PMID: 38757579 and PMID: 39441143 report no cases with this repeat. |
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| Intellectual disability v8.162 | THAP11_CAG | Sarah Leigh Classified STR: THAP11_CAG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.162 | THAP11_CAG | Sarah Leigh Added comment: Comment on list classification: This STR has not been approved by NHS STR working group and is not NGS Not Validated | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.162 | THAP11_CAG | Sarah Leigh Str: thap11_cag has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.161 | THAP11_CAG |
Sarah Leigh STR: THAP11_CAG was added STR: THAP11_CAG was added to Intellectual disability. Sources: Literature STR, NGS Not Validated tags were added to STR: THAP11_CAG. Mode of inheritance for STR: THAP11_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for STR: THAP11_CAG were set to 37148549; 38757579; 39441143 Phenotypes for STR: THAP11_CAG were set to Spinocerebellar ataxia 51, OMIM:620947 Review for STR: THAP11_CAG was set to RED Added comment: THAP11 transcribed from the forward strand. THAP11_CAG is not on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r3 THAP11_CAG is not is not DRAGON 4.02 or other previous versions. The coordinates and pathogenic ranges of the sequence repeats were obtained from https://stripy.org/database/THAP11 This STR has not been approved by NHS STR working group and is not NGS Not Validated Sources: Literature |
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