Skeletal dysplasia
Gene: HGSNAT
In lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD). Several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: HGSNAT; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotypes in OMIM and with Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 in G2P. Numerous variants reportedCreated: 29 Jul 2016, 6:56 a.m.
Comment on phenotypes: Variants also reported in Retinitis pigmentosa 73 616544Created: 29 Jul 2016, 6:55 a.m.
Tier 2Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930; Retinitis pigmentosa 73 616544
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 for gene: HGSNAT
Source NHS GMS was added to HGSNAT. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for HGSNAT were set to Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
Mode of inheritance for HGSNAT was changed to BIALLELIC, autosomal or pseudoautosomal
HGSNAT was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
HGSNAT was added to Unexplained skeletal dysplasiapanel. Sources:
HGSNAT was created by sleigh