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| Intellectual disability v8.163 | AFF2_GCC |
Sarah Leigh STR: AFF2_GCC was added STR: AFF2_GCC was added to Intellectual disability. Sources: Literature STR, NGS Not Validated tags were added to STR: AFF2_GCC. Mode of inheritance for STR: AFF2_GCC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: AFF2_GCC were set to 8334699; 8023854; 21739600; 9299237; 11171404; 11923441; 19136466; 2356291 Phenotypes for STR: AFF2_GCC were set to Intellectual developmental disorder, X-linked 109, OMIM:309548; FRAXE intellectual disability, MONDO:0010659 Review for STR: AFF2_GCC was set to GREEN Added comment: AFF2 transcribed from the forwards strand, which means that the repeated sequence is the forward strand sequence. AFF2_GCC is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r3 AFF2_GCC is on https://stripy.org/database AFF2_GCC is on DRAGON 4.02. The coordinates and pathogenic ranges of the sequence repeats were obtained from https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r3 and DRAGON 4.02/ 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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