Mucopolysaccharideosis, Gaucher, Fabry

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

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Green gene, with a green review and is a confirmed gene on G2P for mucopolysaccharidosis type 3C. Mode of inheritance confirmed on G2P and OMIM.
Created: 29 Feb 2016, 6:01 p.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIIC; Retinitis Pigmentosa 73

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930
  • Mucopolysaccharidosis, Type III
  • Mucopolysaccharidosis Type IIIC
  • Mucopolysaccharidosis Type III
  • Retinitis Pigmentosa 73
OMIM
610453
Clinvar variants
Variants in HGSNAT
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for HGSNAT were set to Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis Type IIIC; Mucopolysaccharidosis Type III; Retinitis Pigmentosa 73

29 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

3 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

HGSNAT was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Emory Genetics Laboratory

3 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

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

3 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

HGSNAT was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Illumina TruGenome Clinical Sequencing Services

3 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

HGSNAT was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Radboud University Medical Center, Nijmegen