Cataract
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Cataracts are a key feature of this condition.
Sources: Expert listCreated: 7 Jul 2020, 2:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloocular syndrome, MIM# 605822
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Spondyloocular syndrome, MIM# 605822
- OMIM
- 608125
- Clinvar variants
- Variants in XYLT2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
7 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: xylt2 has been classified as Green List (High Evidence).
7 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: xylt2 has been classified as Green List (High Evidence).
7 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: XYLT2 was added gene: XYLT2 was added to Cataract. Sources: Expert list Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT2 were set to 26027496 Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome, MIM# 605822 Review for gene: XYLT2 was set to GREEN