Congenital Disorders of Glycosylation

Gene: XYLT1

Green List (high evidence)

XYLT1 (xylosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000103489
EnsemblGeneIds (GRCh37): ENSG00000103489
OMIM: 608124, Gene2Phenotype
XYLT1 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Xylosyltransferase is the initiating and apparently rate-limiting key enzyme in the biosynthesis of the glycosaminoglycan linkage region. It catalyzes the transfer of D-xylose from UDP-D-xylose to specific serine residues of the core protein and is a regulatory factor in chondroitin sulfate biosynthesis.

Well established gene-disease association. Note phenotypic overlap between Desbuquois dysplasia and Baratela-Scott syndrome, uncertain if separate entities. Also note identification of deletions and triplet expansion in promoter region in some individuals with BSS.
Created: 22 Dec 2020, 12:36 a.m. | Last Modified: 22 Dec 2020, 12:36 a.m.
Panel Version: 0.367

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Desbuquois dysplasia 2, MIM# 615777; Baratela-Scott syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Desbuquois dysplasia 2, MIM# 615777
  • Baratela-Scott syndrome
Tags
SV/CNV STR
OMIM
608124
Clinvar variants
Variants in XYLT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: xylt1 has been classified as Green List (High Evidence).

22 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: XYLT1 were changed from to Desbuquois dysplasia 2, MIM# 615777; Baratela-Scott syndrome

22 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: XYLT1 were set to

22 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: XYLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Dec 2020, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: XYLT1. Tag STR tag was added to gene: XYLT1.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: XYLT1 was added gene: XYLT1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: XYLT1 was set to Unknown