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Inborn errors of metabolism

Gene: HGSNAT

Green List (high evidence)

HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000165102
EnsemblGeneIds (GRCh37): ENSG00000165102
OMIM: 610453, Gene2Phenotype
HGSNAT is in 12 panels

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Details

Mode of Inheritance
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)
OMIM
610453
Clinvar variants
Variants in HGSNAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HGSNAT. Source London North GLH was added to HGSNAT.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: HGSNAT was added gene: HGSNAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGSNAT were set to 27604308 Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III; Retinitis Pigmentosa 73; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Mucopolysaccharidosis Type IIIC; MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses)