XYLT2

xylosyltransferase 2
OMIM: 608125, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green XYLT2 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

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

Green XYLT2 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.44

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spondyloocular syndrome MIM# 605822

    Green XYLT2 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spondyloocular syndrome MIM# 605822

    Green XYLT2 in Osteogenesis Imperfecta and Osteoporosis


    Level 2: Skeletal disorders
    Version 0.114

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

    Green XYLT2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

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

    Green XYLT2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

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

    Green XYLT2 in Fetal anomalies


    Version 1.255

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

    Green XYLT2 in Prepair 1000+


    Level 2: Screening
    Version 1.9

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

    Green XYLT2 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

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