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Skeletal dysplasia

Gene: XYLT2

Green List (high evidence)

XYLT2 (xylosyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000015532
EnsemblGeneIds (GRCh37): ENSG00000015532
OMIM: 608125, Gene2Phenotype
XYLT2 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

5 unrelated individuals/families in total described with Spondylo-Ocular Syndrome (PMID: 26027496, 26987875, 30891060).
Created: 3 Mar 2022, 7:46 a.m. | Last Modified: 3 Mar 2022, 7:46 a.m.
Panel Version: 0.11125

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 Review Green
  • Expert list
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondyloocular syndrome 605822
OMIM
608125
Clinvar variants
Variants in XYLT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: xylt2 has been classified as Green List (High Evidence).

17 Dec 2019, Gel status: 3

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 Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT2 were set to 26987875 Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome 605822