GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: XYLT2

XYLT2 (xylosyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000015532
EnsemblGeneIds (GRCh37): ENSG00000015532
OMIM: 608125, Gene2Phenotype
XYLT2 is in 9 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

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, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloocular syndrome 605822

Publications

26987875

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
NHS GMS

Phenotypes

Spondyloocular syndrome 605822

OMIM

608125

Clinvar variants

Variants in XYLT2

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: XYLT2 was added gene: XYLT2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome 605822

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: XYLT2