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| Early onset or syndromic epilepsy v7.86 | STARD7_ATTTC | Sarah Leigh commented on STR: STARD7_ATTTC: A long stretch ATTTC repeats is present in conjunction with ATTTT repeats in the intron 1 in the STARD7 gene in patients with OMIM:607876 (Corbett et al. 2019 PMID:31664034). In affected individuals the pathogenic configuration was defined as: (ATTTC)exp(ATTTT )exp. None of the control samples had any repeats of the pathogenic ATTTC motif (PMID:31664034). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.86 | STARD7_ATTTC |
Sarah Leigh STR: STARD7_ATTTC was added STR: STARD7_ATTTC was added to Early onset or syndromic epilepsy. Sources: Literature STR, NGS Not Validated tags were added to STR: STARD7_ATTTC. Mode of inheritance for STR: STARD7_ATTTC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for STR: STARD7_ATTTC were set to 31664034 Phenotypes for STR: STARD7_ATTTC were set to Epilepsy, familial adult myoclonic, 2, OMIM:607876; epilepsy, familial adult myoclonic, 2, MONDO:0011930 Review for STR: STARD7_ATTTC was set to GREEN Added comment: STARD7 transcribed from the reverse strand, which means that the repeated sequence is the reverse compliment of the forward strand sequence. STARD7_ATTTC is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 STARD7_ATTTC is on https://stripy.org/database STARD7_ATTTT is on DRAGON 4.02. The coordinates of the sequence repeats shown above were the same on DRAGON 4.02, https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 and https://stripy.org/database 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 and 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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