Congenital Disorders of Glycosylation
Gene: XYLT2EnsemblGeneIds (GRCh38): ENSG00000015532
EnsemblGeneIds (GRCh37): ENSG00000015532
OMIM: 608125, Gene2Phenotype
XYLT2 is in 9 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
5 unrelated individuals/families in total described with Spondylo-Ocular Syndrome (PMID: 26027496, 26987875, 30891060).
XYLT2-CDG has been referred to as a "proteoglycan ‘linker’ glycan disorder" (PMID: 28484880)
Sources: LiteratureCreated: 15 Jul 2020, 12:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloocular syndrome MIM# 605822
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spondyloocular syndrome MIM# 605822
- OMIM
- 608125
- Clinvar variants
- Variants in XYLT2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: xylt2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: XYLT2 were changed from to Spondyloocular syndrome MIM# 605822
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: xylt2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications
Paul De Fazio (Victorian Clinical Genetics Services)gene: XYLT2 was added gene: XYLT2 was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT2 were set to 26027496; 26987875; 30891060; 28484880 Review for gene: XYLT2 was set to GREEN gene: XYLT2 was marked as current diagnostic