1. Genes and Genomic Entities
  2. HGSNAT

HGSNAT

heparan-alpha-glucosaminide N-acetyltransferase
OMIM: 610453, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Green HGSNAT in Mucopolysaccharideosis, Gaucher, Fabry

Level 3: Lysosomal storage disorders
Level 2: Metabolic disorders
Version 1.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930
  • Mucopolysaccharidosis, Type III
  • Mucopolysaccharidosis Type IIIC
  • Mucopolysaccharidosis Type III
  • Retinitis Pigmentosa 73
Red HGSNAT in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21

review Not set
Sources
  • Emory Genetics Laboratory
Green HGSNAT in Lysosomal storage disorder


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • North London GLH
Phenotypes
  • Mucopolysaccharidosis type IIIC (Sanfilippo C) OMIM:252930
  • Sanfilippo syndrome type C MONDO:0009657
Green HGSNAT in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.65
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
    Green HGSNAT in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses)
    • Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930
    • Mucopolysaccharidosis, Type III
    • Mucopolysaccharidosis Type IIIC
    • Mucopolysaccharidosis Type III
    • Retinitis Pigmentosa 73
    Green HGSNAT in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    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
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mucopolysaccharidosis Type III
    • Mucopolysaccharidosis, Type III
    • Retinitis Pigmentosa 73
    • Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930
    • Mucopolysaccharidosis Type IIIC
    • MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses)
    Amber HGSNAT in Fetal anomalies


    Version 3.169
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • MUCOPOLYSACCHARIDOSIS TYPE 3C
    Green HGSNAT in DDG2P


    Version 3.90
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MUCOPOLYSACCHARIDOSIS TYPE 3C 252930
    Green HGSNAT in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.550
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • MUCOPOLYSACCHARIDOSIS TYPE 3C (MPS3C)
    Green HGSNAT in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.90
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    Phenotypes
    • Retinitis pigmentosa 73
    Amber HGSNAT in Paediatric or syndromic cardiomyopathy


    Version 3.47
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • MetBioNet
    • MetBioNet
    Phenotypes
    • Mucopolysaccharidosis Type IIIC
    • MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses)
    • Retinitis Pigmentosa 73
    • Mucopolysaccharidosis, Type III
    • Mucopolysaccharidosis Type III
    • Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930
    Red HGSNAT in Childhood onset dystonia, chorea or related movement disorder


    Version 3.78
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green HGSNAT in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930
    • Retinitis pigmentosa 73, 616544