1. Panels
  2. Syndromic Retinopathy
  3. HGSNAT
STRs in panel
Prev Next
Regions in panel
Prev Next

Syndromic Retinopathy

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

History Filter Activity

7 Feb 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HGSNAT was added gene: HGSNAT was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HGSNAT were set to Retinitis pigmentosa 73