XYLT2

xylosyltransferase 2
OMIM: 608125, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green XYLT2 in Cataract


Level 2: Ophthalmological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spondyloocular syndrome, MIM# 605822

Green XYLT2 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Spondyloocular syndrome MIM# 605822

Green XYLT2 in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders; Endocrine disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spondyloocular syndrome MIM#605822

Green XYLT2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • NHS GMS
  • Expert list
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Spondyloocular syndrome 605822

Green XYLT2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Spondyloocular syndrome, 605822 (3), Autosomal recessive

Green XYLT2 in Fetal anomalies


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Literature
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Spondyloocular syndrome MIM# 605822

Green XYLT2 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Spondyloocular syndrome MIM#605822

Green XYLT2 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spondyloocular syndrome MIM#605822