Rare genetic inflammatory skin disorders
Gene: XYLT2
XYLT2 (xylosyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000015532
EnsemblGeneIds (GRCh37): ENSG00000015532
OMIM: 608125, Gene2Phenotype
XYLT2 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000015532
EnsemblGeneIds (GRCh37): ENSG00000015532
OMIM: 608125, Gene2Phenotype
XYLT2 is in 9 panels
1 review
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: XYLT2; Suggested initial gene rating: Red; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:02 p.m.
Details
- Sources
-
- London North GLH
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Scleroderma
- OMIM
- 608125
- Clinvar variants
- Variants in XYLT2
- Penetrance
- None
- Panels with this gene
History Filter Activity
18 Feb 2019, Gel status: 1
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to XYLT2.
31 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: XYLT2 was added gene: XYLT2 was added to Rare genetic inflammatory skin disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: XYLT2 was set to Phenotypes for gene: XYLT2 were set to Scleroderma