Skeletal dysplasia
Gene: XYLT1EnsemblGeneIds (GRCh38): ENSG00000103489
EnsemblGeneIds (GRCh37): ENSG00000103489
OMIM: 608124, Gene2Phenotype
XYLT1 is in 9 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Dysplasias with nultiple joint dislocations gp of SD - severe growth retardation (short long bones). green - multiple reports; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia 2 615777
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: XYLT1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Sarah Leigh (Genomics England Curator)
There is enough evidence for XYLT1_GGC to be green on this panel. At least ten patients from at least eight families have either homozygous or compound heterozygous (with other XYLT1 variants) XYLT1_GGC expansions (PMID: 22711505;30554721).Created: 8 Oct 2024, 2:30 p.m. | Last Modified: 8 Oct 2024, 2:30 p.m.
Panel Version: 6.23
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:16 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 17 Jun 2016, 8:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia 2 615777; {Pseudoxanthoma elasticum, modifier of severity of} 264800
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Desbuquois dysplasia 2, OMIM:615777
- Desbuquois dysplasia 2, MONDO:0014343
- Tags
- OMIM
- 608124
- Clinvar variants
- Variants in XYLT1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2, 615777 to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: XYLT1 were set to
Added Tag
Sarah Leigh (Genomics England Curator)Tag STR tag was added to gene: XYLT1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2 615777; Desbuquois dysplasia 2 615777 to Desbuquois dysplasia 2, 615777
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Desbuquois dysplasia 2 615777 for gene: XYLT1
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to XYLT1. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for XYLT1 were set to Desbuquois dysplasia 2 615777
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for XYLT1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)XYLT1 was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)XYLT1 was created by sleigh