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| Skeletal dysplasia v7.30 | XYLT1_GCC |
Sarah Leigh changed review comment from: XYLT1 transcribed from the reverse strand, which means that the repeated sequence is the reverse compliment of the forward strand sequence. XYLT1_GCC is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r3 XYLT1_GCC is on https://stripy.org/database XYLT1_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 were the same on https://stripy.org/database/ and DRAGON 4.02/ This STR has not been approved by NHS STR working group and is not NGS Not Validated Sources: Literature; to: XYLT1 transcribed from the reverse strand, which means that the repeated sequence is the reverse compliment of the forward strand sequence. XYLT1_GCC is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r3 XYLT1_GCC is on https://stripy.org/database XYLT1_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 were the same on https://stripy.org/database/ and DRAGON 4.02/ There is enough evidence for XYLT1_GGC to be green on this panel. At least ten patients from at least eight families have either homozygous or compound heterozygous (with other XYLT1 variants) XYLT1_GGC expansions (PMID: 22711505;30554721). This STR has not been approved by NHS STR working group and is not NGS Not Validated Sources: Literature |
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| Skeletal dysplasia v7.30 | XYLT1_GCC |
Sarah Leigh STR: XYLT1_GCC was added STR: XYLT1_GCC was added to Skeletal dysplasia. Sources: Literature STR, NGS Not Validated tags were added to STR: XYLT1_GCC. Mode of inheritance for STR: XYLT1_GCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: XYLT1_GCC were set to 22711505; 30554721 Phenotypes for STR: XYLT1_GCC were set to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343 Review for STR: XYLT1_GCC was set to GREEN Added comment: XYLT1 transcribed from the reverse strand, which means that the repeated sequence is the reverse compliment of the forward strand sequence. XYLT1_GCC is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r3 XYLT1_GCC is on https://stripy.org/database XYLT1_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 were the same on https://stripy.org/database/ and DRAGON 4.02/ This STR has not been approved by NHS STR working group and is not NGS Not Validated Sources: Literature |
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