1. Genes and Genomic Entities
  2. XYLT1

XYLT1

xylosyltransferase 1
OMIM: 608124, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green XYLT1 in Congenital disorders of glycosylation


Level 2: Metabolic
Version 8.1
Latest signed off version: v8.0 (6 May 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Desbuquois dysplasia 2 615777
    Tags
    • STR
    Green XYLT1 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 9.9
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Desbuquois dysplasia 2, OMIM:615777
    • Desbuquois dysplasia 2, MONDO:0014343
    Tags
    • STR
    Green XYLT1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.645

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Desbuquois dysplasia 2, OMIM:615777
    • Desbuquois dysplasia 2, MONDO:0014343
    Tags
    • STR
    Green XYLT1 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.4
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Desbuquois dysplasia 2, OMIM:615777
    • Desbuquois dysplasia 2, MONDO:0014343
    Tags
    • STR
    Green XYLT1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.8
    Latest signed off version: v7.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Desbuquois dysplasia 2, OMIM:615777
    • Desbuquois dysplasia 2, MONDO:0014343
    Tags
    • STR
    Green XYLT1 in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • XYLT1-related Desbuquois dysplasia, OMIM:615777
    Tags
    • STR
    Green XYLT1 in Clefting


    Level 2: Musculoskeletal
    Version 7.3
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Desbuquois dysplasia 2, OMIM:615777
    • Desbuquois dysplasia 2, MONDO:0014343
    Tags
    • STR
    Green XYLT1 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Desbuquois dysplasia 2, OMIM:615777
    • Desbuquois dysplasia 2, MONDO:0014343
    Tags
    • STR
    Red XYLT1 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 8.3
    Latest signed off version: v8.0 (6 May 2026)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Desbuquois dysplasia 2, OMIM:615777
    • Desbuquois dysplasia 2, MONDO:0014343
    Tags
    • STR
    Red XYLT1_GCC STR in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 9.9
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Desbuquois dysplasia 2, OMIM:615777
    • Desbuquois dysplasia 2, MONDO:0014343
    Tags
    • STR
    • NGS Not Validated
    Red XYLT1_GCC STR in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.8
    Latest signed off version: v7.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Desbuquois dysplasia 2, OMIM:615777
    • Desbuquois dysplasia 2, MONDO:0014343
    Tags
    • STR
    • NGS Not Validated