Congenital Disorders of Glycosylation
Gene: XYLT1EnsemblGeneIds (GRCh38): ENSG00000103489
EnsemblGeneIds (GRCh37): ENSG00000103489
OMIM: 608124, Gene2Phenotype
XYLT1 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
- OMIM
- 608124
- Clinvar variants
- Variants in XYLT1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Repeat Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Short Long Bones with Advanced Carpal Bone Age
- Congenital Disorders of Glycosylation
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Skeletal Dysplasia_Fetal
- Prepair 1000+
- Multiple joint dislocations and laxity
- Mendeliome
- Intellectual disability syndromic and non-syndromic
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: xylt1 has been classified as Green List (High Evidence).
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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: XYLT1 were set to
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
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.
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