Skeletal dysplasia

Gene: XYLT2

I don't know

OI and decreasing bone density gp of SD - low bone mineral density leading to multiple skeletal abnormalities (esp vertebrae). green - only 2 families described but both segregate correctly as AR and functional work shows reduced levels of XylT. amber/green. Note added by AW - SERPINH1 yes. Listed in Bonafe. OI type X. ; Review on behalf of Tracy Lester/Michael Oldridge/Andrew Wilkie

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloocular syndrome 605822

Publications

• 26987875

I don't know

PMID: 26027496 - Munns et al 2015 - 3 patients from 2 unrelated families with bone fragility, hearing impairment, cardiac septal defects, and learning difficulties (spondyloocular syndrome). Identified homozygosity for a 1-bp duplication and a 1-bp deletion, respectively. The mutations, which segregated with disease in each family, were not found in public variant databases.

PMID: 26987875- Taylan et al 2016 - report on 4 patients, 2 unrelated patients and 2 siblings, with spondyloocular syndrome and novel mutations in XYLT2.

Created: 7 May 2019, 10:52 p.m.

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: XYLT2; Initial rating suggestion: I don't know

Created: 6 Mar 2019, 11:37 a.m.

Comment when marking as ready: Associated with phenotypes in OMIM and Spondyloocular syndrome 605822 in G2P. At least three variants reported in Spondyloocular syndrome 605822

Created: 1 Aug 2016, 9:59 a.m.

Comment on phenotypes: At least one variant also reported in Pseudoxanthoma elasticum, modifier of severity of 264800

Created: 1 Aug 2016, 9:58 a.m.

Green List (high evidence)

Tier 1

Created: 17 Jun 2016, 8:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloocular syndrome 605822; {Pseudoxanthoma elasticum, modifier of severity of} 264800

Variants in this GENE are reported as part of current diagnostic practice