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  2. Congenital disorders of glycosylation
  3. XYLT2
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Congenital disorders of glycosylation

Gene: XYLT2

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a probable Developmental Disorder Gene / G2P. At least 2 variants reported 5 unrelated families/cases.
Created: 19 Dec 2016, 5 p.m.
Comment on phenotypes: Also associated with {Pseudoxanthoma elasticum, modifier of severity of} 264800
Created: 19 Dec 2016, 4:56 p.m.
Created: 19 Dec 2016, 4:56 p.m.

Panel version: 0.192

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

spondylo-ocular syndrome
Created: 14 Dec 2016, 12:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 14 Dec 2016, 12:08 p.m.

Panel version: 0.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spondyloocular syndrome 605822
OMIM
608125
Clinvar variants
Variants in XYLT2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

19 Dec 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).

19 Dec 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).

19 Dec 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for XYLT2 were set to Spondyloocular syndrome 605822

19 Dec 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for XYLT2 were set to Spondyloocular syndrome 605822

19 Dec 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

XYLT2 was added to Congenital disorders of glycosylationpanel. Sources: Radboud University Medical Center, Nijmegen

19 Dec 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

XYLT2 was added to Congenital disorders of glycosylationpanel. Sources: Radboud University Medical Center, Nijmegen

14 Dec 2016, Gel status: 0

Created

Daniel Ungar (University of York, Department of Biology)

XYLT2 was created by ungardani

14 Dec 2016, Gel status: 0

Added New Source

Daniel Ungar (University of York, Department of Biology)

XYLT2 was added to Congenital disorders of glycosylationpanel. Sources: Literature