Congenital Disorders of Glycosylation
Gene: XYLT1
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
Gene: xylt1 has been classified as Green List (High Evidence).
Phenotypes for gene: XYLT1 were changed from to Desbuquois dysplasia 2, MIM# 615777; Baratela-Scott syndrome
Publications for gene: XYLT1 were set to
Mode of inheritance for gene: XYLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tag SV/CNV tag was added to gene: XYLT1. Tag STR tag was added to gene: XYLT1.
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