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  3. HGSNAT
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Lysosomal storage disorder

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

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Biallelic variants are also associated with Retinitis pigmentosa 73 OMIM:616544
Created: 16 Mar 2021, 4:22 p.m. | Last Modified: 16 Mar 2021, 4:22 p.m.
Panel Version: 1.38
Created: 16 Mar 2021, 4:22 p.m.
Last Modified: 16 Mar 2021, 4:22 p.m.
Panel version: 1.38

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930

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

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • North London GLH
Phenotypes
  • Mucopolysaccharidosis type IIIC (Sanfilippo C) OMIM:252930
  • Sanfilippo syndrome type C MONDO:0009657
OMIM
610453
Clinvar variants
Variants in HGSNAT
Penetrance
None
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 to Mucopolysaccharidosis type IIIC (Sanfilippo C) OMIM:252930; Sanfilippo syndrome type C MONDO:0009657

13 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: HGSNAT was added gene: HGSNAT was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS 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