Retinal disorders
Gene: HGSNAT
HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000165102
EnsemblGeneIds (GRCh37): ENSG00000165102
OMIM: 610453, Gene2Phenotype
HGSNAT is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000165102
EnsemblGeneIds (GRCh37): ENSG00000165102
OMIM: 610453, Gene2Phenotype
HGSNAT is in 12 panels
4 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene promoted from red to green due to expert review. Two green reviews, and 3 family reports in PMID: 25859010.Created: 1 Jun 2018, 2:05 p.m.
Andrew Webster (Moorfields Eye Hospital)
Multiple reports of non-syndromic adult onset RP associated with biallelic genotypes which include one or two specific alleles likely to be hypomorphic with partial enzymatic activity.Created: 9 May 2018, 2:13 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity
Other
Ellen Thomas (Genomics England Curator)
3 families, several homozygous variants, no syndromic features. Worth getting the opinion of an eye specialist at next review of this panel.Created: 1 Sep 2017, 4:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 73
Publications
- PubMed: 25859010
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Other
- Phenotypes
-
- Retinitis pigmentosa 73
- OMIM
- 610453
- Clinvar variants
- Variants in HGSNAT
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Intellectual disability
- Fetal anomalies
- DDG2P
- Lysosomal storage disorder
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Retinal disorders
History Filter Activity
3 Apr 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to HGSNAT. Rating Changed from Green List (high evidence) to Green List (high evidence)
1 Jun 2018, Gel status: 3
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: hgsnat has been classified as Green List (High Evidence).
1 Jun 2018, Gel status: 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: HGSNAT were set to 25859010
1 Sep 2017, Gel status: 0
Added New Source
Ellen Thomas (Genomics England Curator)HGSNAT was added to Posterior segment abnormalitiespanel. Sources: Other
1 Sep 2017, Gel status: 0
Created
Ellen Thomas (Genomics England Curator)HGSNAT was created by EllenThomas