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Skeletal dysplasia

Gene: HGSNAT

Green List (high evidence)

HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000165102
EnsemblGeneIds (GRCh37): ENSG00000165102
OMIM: 610453, Gene2Phenotype
HGSNAT is in 13 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

In lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD). Several cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: HGSNAT; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and with Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 in G2P. Numerous variants reported
Created: 29 Jul 2016, 6:56 a.m.
Comment on phenotypes: Variants also reported in Retinitis pigmentosa 73 616544
Created: 29 Jul 2016, 6:55 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930; Retinitis pigmentosa 73 616544

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
OMIM
610453
Clinvar variants
Variants in HGSNAT
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 for gene: HGSNAT

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to HGSNAT. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

29 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for HGSNAT were set to Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930

29 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for HGSNAT was changed to BIALLELIC, autosomal or pseudoautosomal

29 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

HGSNAT was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

HGSNAT was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

HGSNAT was created by sleigh