PanelApp
  1. Genes and Genomic Entities
  2. HGSNAT

HGSNAT

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

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green HGSNAT in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.151

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930
  • MONDO:0009657

Green HGSNAT in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930
  • MONDO:0009657
  • Retinitis pigmentosa 73, MIM# 616544
  • MONDO:0014687

Green HGSNAT in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 1.23

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930
    • MONDO:0009657
    • Retinitis pigmentosa 73, MIM# 616544
    • MONDO:0014687

    Green HGSNAT in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930
    • MONDO:0009657

    Green HGSNAT in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930
    • MONDO:0009657

    Green HGSNAT in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

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

    Green HGSNAT in Retinitis pigmentosa_Autosomal Recessive/X-linked


    Level 2: Ophthalmological disorders
    Version 0.182

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 73

    Green HGSNAT in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.234

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • RetNet
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Retinitis pigmentosa 73

    Green HGSNAT in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)

    Amber HGSNAT in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • MetBioNet
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses)
    • Mucopolysaccharidosis Type III
    • Mucopolysaccharidosis Type IIIC
    • Mucopolysaccharidosis, Type III
    • Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930
    • Retinitis Pigmentosa 73

    Green HGSNAT in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Mucopolysaccharidosis IIIC

    Red HGSNAT in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930
    • MONDO:0009657

    Green HGSNAT in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930

    Red HGSNAT in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930

    Green HGSNAT in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930
    • Retinitis pigmentosa 73, MIM#616544