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| Distal myopathies v6.4 | GIPC1_GGC |
Sarah Leigh STR: GIPC1_GGC was added STR: GIPC1_GGC was added to Distal myopathies. Sources: Literature STR, NGS Not Validated tags were added to STR: GIPC1_GGC. Mode of inheritance for STR: GIPC1_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for STR: GIPC1_GGC were set to 32413282; 33374016 Phenotypes for STR: GIPC1_GGC were set to Oculopharyngodistal myopathy 2, OMIM:618940 Review for STR: GIPC1_GGC was set to GREEN Added comment: GIPC1 transcribed from the reverse strand, which means that the repeated sequence is the reverse compliment of the forward strand sequence. GIPC1_GGC is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r3 GIPC1_GGC is on https://stripy.org/database GIPC1_GGC 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 were the same on https://stripy.org/database 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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| Distal myopathies v3.12 | GIPC1 | Sarah Leigh Added comment: Comment on list classification: This gene will remain red as it is only the GIPC1_GGC expansion that has been associated with disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||