Multiple joint dislocations and laxity
Gene: XYLT1

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)

Well established gene-disease association. 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, 12:41 a.m. | Last Modified: 22 Dec 2020, 12:41 a.m.

Panel Version: 0.5769

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 22 Dec 2020, 12:41 a.m.
Last Modified: 22 Dec 2020, 12:41 a.m.
Panel version: Imported from Mendeliome panel version 0.5769

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
VCGS Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

DESBUQUOIS DYSPLASIA 2 615777

OMIM

608124

Clinvar variants

Variants in XYLT1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

12 Feb 2020, Gel status: 3

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Tiong Tan (Victorian Clinical Genetics Services)

Source Expert Review Green was added to XYLT1. Source Victorian Clinical Genetics Services was added to XYLT1. Added phenotypes DESBUQUOIS DYSPLASIA 2 615777 for gene: XYLT1 Publications for gene XYLT1 were updated from 24581741; 23982343 to 23982343; 24581741 Rating Changed from Red List (low evidence) to Green List (high evidence)

12 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Tiong Tan (Victorian Clinical Genetics Services)

gene: XYLT1 was added gene: XYLT1 was added to Multiple joint dislocations and laxity. Sources: VCGS Expert Review Green Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT1 were set to 24581741; 23982343 Phenotypes for gene: XYLT1 were set to DESBUQUOIS DYSPLASIA 2 615777

Multiple joint dislocations and laxity Gene: XYLT1