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Prepair 1000+

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

Shakira Heerah (Victorian Clinical Genetics Services)

Green List (high evidence)

The link between the gene and disease is well-known, over 5 families reported with Desbuquois dysplasia.

Desbuquois dysplasia and Baratela-Scott syndrome share similar features, making it unclear if they are different conditions. Some individuals with BSS also have deletions and triplet expansions in the promoter region.
Created: 30 Dec 2024, 1 a.m. | Last Modified: 30 Dec 2024, 1 a.m.
Panel Version: 1.978

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

History Filter Activity

17 Jan 2025, 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).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2, 615777 (3) to Desbuquois dysplasia 2, MIM#615777

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: XYLT1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: XYLT1 was added gene: XYLT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2, 615777 (3)