Osteogenesis Imperfecta and Osteoporosis
Gene: XYLT2EnsemblGeneIds (GRCh38): ENSG00000015532
EnsemblGeneIds (GRCh37): ENSG00000015532
OMIM: 608125, Gene2Phenotype
XYLT2 is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Generalised osteoporosis and recurrent fractures are a feature of the condition, which overlaps with the OI phenotype. >3 families reported.
Sources: Expert listCreated: 30 Aug 2021, 2:41 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
- Expert list
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: xylt2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: xylt2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: XYLT2 was added gene: XYLT2 was added to Osteogenesis Imperfecta. Sources: Expert list Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT2 were set to 26027496; 26987875 Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome MIM#605822 Review for gene: XYLT2 was set to GREEN gene: XYLT2 was marked as current diagnostic