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  3. HGSNAT
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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 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families reported with bi-allelic variants and RP with no extraocular features, PMID 25859010
Created: 10 Apr 2021, 1:19 a.m. | Last Modified: 10 Apr 2021, 1:19 a.m.
Panel Version: 0.7107

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 73, MIM# 616544; MONDO:0014687

Publications

Created: 10 Apr 2021, 1:19 a.m.
Last Modified: 10 Apr 2021, 1:19 a.m.
Panel version: Imported from Mendeliome panel version 0.7107

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 19479962; 50 variants from 83 families with Sanfilippo Syndrome Type C
PMID: 31228227; 25 families with Mucopolysaccharidosis type IIIC (MPSIIIC)

PMID: 31228227; 20825431; 20583299; functional assays of missense variants
Created: 19 Feb 2020, 12:32 a.m. | Last Modified: 19 Feb 2020, 12:32 a.m.
Panel Version: 0.1386

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 19 Feb 2020, 12:32 a.m.
Last Modified: 19 Feb 2020, 12:32 a.m.
Panel version: Imported from Mendeliome panel version 0.1386

Details

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

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HGSNAT was added gene: HGSNAT was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930