Bilateral congenital or childhood onset cataracts
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
Ivone Leong (Genomics England Curator)
XYLT2 is associated with a phenotype on OMIM and probably associated with a phenotype on Gene2Phenotype. There are >3 unrelated cases of patients with Spondyloocular Syndrome who have cataracts who have different variants in the XYLT2 gene. Therfore, there is enough evidence for this gene to be green.Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:43 p.m.
Panel Version: 1.32
This gene was submitted on behalf of Graeme Black (North West GLH). Gene Symbol submitted: XYLT2; Suggested initial gene rating: Green; Evidence for inclusion: [none provided]; Evidence for exclusion: [none provided]; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): [none provided]Created: 28 Aug 2019, 3:42 p.m. | Last Modified: 28 Aug 2019, 3:42 p.m.
Panel Version: 1.31
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Spondyloocular syndrome, 605822
- OMIM
- 608125
- Clinvar variants
- Variants in XYLT2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
28 Aug 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: XYLT2 was added gene: XYLT2 was added to Cataracts. Sources: Expert Review Green,Expert list Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT2 were set to 26987875; 26027496; 28884924; 30496831; 29136277 Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome, 605822