1. Genes and Genomic Entities
  2. CSGALNACT1

CSGALNACT1

chondroitin sulfate N-acetylgalactosaminyltransferase 1
OMIM: 616615, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green CSGALNACT1 in Congenital disorders of glycosylation


Level 2: Metabolic
Version 7.13
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital disorder of glycosylation
    • Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870
    • skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029
    Green CSGALNACT1 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.33
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Desbuquois dysplasia with mild joint laxity
    • non-proportionate short stature
    • Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870
    • skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029
    Green CSGALNACT1 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.91
    Latest signed off version: v8.0 (30 Apr 2025)

    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
    • Expert list
    Phenotypes
    • Congenital disorder of glycosylation
    • Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870
    • skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029
    Green CSGALNACT1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Skeletal dysplasia, mild, with joint laxity and advanced bone age, OMIM:618870