Skeletal dysplasia
Gene: SGSH
Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD). Gene previously called HSS - several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900
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: SGSH; Initial rating suggestion: GreenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 29 Jul 2016, 2:37 p.m.
Tier 2Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900 for gene: SGSH
Source NHS GMS was added to SGSH. 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 SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900
Mode of inheritance for SGSH was changed to BIALLELIC, autosomal or pseudoautosomal
SGSH was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
SGSH was added to Unexplained skeletal dysplasiapanel. Sources:
SGSH was created by sleigh