This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
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
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
In lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD). Several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
- OMIM
- 610453
- Clinvar variants
- Variants in HGSNAT
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Lysosomal storage disorder
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Intellectual disability
- Undiagnosed metabolic disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Fetal anomalies
- DDG2P
- Hyperammonaemia
- Skeletal dysplasia
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: HGSNAT was added gene: HGSNAT was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green 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