Congenital disorders of glycosylation
Gene: XYLT1

XYLT1 (xylosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000103489
EnsemblGeneIds (GRCh37): ENSG00000103489
OMIM: 608124, Gene2Phenotype
XYLT1 is in 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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).
Created: 8 Oct 2024, 2:30 p.m. | Last Modified: 8 Oct 2024, 2:30 p.m.

Panel Version: 6.5

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 6 variants reported in 6 unrelated families.
Created: 19 Dec 2016, 4:52 p.m.

Comment on phenotypes: Also associated with {Pseudoxanthoma elasticum, modifier of severity of} 264800
Created: 19 Dec 2016, 4:51 p.m.

Created: 19 Dec 2016, 4:51 p.m.

Panel version: 6.5

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Skeletal abnormalities, short stature
Desbuquois dysplasia type 2
Created: 14 Dec 2016, noon

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 14 Dec 2016, 11:59 a.m.

Panel version: 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Desbuquois dysplasia 2 615777

Tags

STR

OMIM

608124

Clinvar variants

Variants in XYLT1

Penetrance

Complete

Publications

Panels with this gene