Skeletal dysplasia
Gene: SLC17A5
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
Sialic acid storage disorder, infantile 269920
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: SLC17A5; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotypes in OMIM and G2P. Numerous variants reported in Sialic acid storage disorder, infantile 269920Created: 29 Jul 2016, 3:04 p.m.
Comment on phenotypes: Variants also reported in Salla disease 604369Created: 29 Jul 2016, 3:04 p.m.
Tier 2Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Salla disease 604369; Sialic acid storage disorder, infantile 269920
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SLC17A5 were changed from Sialic acid storage disorder, infantile 269920 to Salla disease, OMIM:604369; Sialic acid storage disorder, infantile, OMIM:269920
Added phenotypes Sialic acid storage disorder, infantile 269920 for gene: SLC17A5
Source NHS GMS was added to SLC17A5. 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 SLC17A5 were set to Sialic acid storage disorder, infantile 269920
Mode of inheritance for SLC17A5 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC17A5 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
SLC17A5 was created by sleigh
SLC17A5 was added to Unexplained skeletal dysplasiapanel. Sources: