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Skeletal dysplasia

Gene: XYLT2

Green List (high evidence)

XYLT2 (xylosyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000015532
EnsemblGeneIds (GRCh37): ENSG00000015532
OMIM: 608125, Gene2Phenotype
XYLT2 is in 10 panels

4 reviews

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, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloocular syndrome 605822

Publications

Eleanor Williams (Genomics England Curator)

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.

Sarah Leigh (Genomics England Curator)

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.

Ana Beleza (Bristol Regional Genetics Service)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Spondyloocular syndrome 605822
OMIM
608125
Clinvar variants
Variants in XYLT2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Spondyloocular syndrome 605822 for gene: XYLT2

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to XYLT2. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

1 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for XYLT2 were set to Spondyloocular syndrome 605822

1 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for XYLT2 were set to 26987875

1 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for XYLT2 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Aug 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

XYLT2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

XYLT2 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

XYLT2 was created by sleigh