GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: XYLT1

XYLT1 (xylosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000103489
EnsemblGeneIds (GRCh37): ENSG00000103489
OMIM: 608124, Gene2Phenotype
XYLT1 is in 9 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Dysplasias with nultiple joint dislocations gp of SD - severe growth retardation (short long bones). green - multiple reports; Review on behalf of Tracy Lester/Michael Oldridge
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Desbuquois dysplasia 2 615777

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Desbuquois dysplasia 2 615777

OMIM

608124

Clinvar variants

Variants in XYLT1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: XYLT1 was added gene: XYLT1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,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

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: XYLT1