Skeletal dysplasia

STR: XYLT1_GCC

Green List (high evidence)

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

Created: 19 Mar 2025, 2:41 p.m. | Last Modified: 19 Mar 2025, 2:42 p.m.

Panel Version: 7.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343

Publications

• 22711505
• 30554721