Skeletal dysplasia
Gene: SLC17A5EnsemblGeneIds (GRCh38): ENSG00000119899
EnsemblGeneIds (GRCh37): ENSG00000119899
OMIM: 604322, Gene2Phenotype
SLC17A5 is in 13 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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
Eleanor Williams (Genomics England Curator)
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.
Sarah Leigh (Genomics England Curator)
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.
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Salla disease, OMIM:604369
- Sialic acid storage disorder, infantile, OMIM:269920
- OMIM
- 604322
- Clinvar variants
- Variants in SLC17A5
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Fetal anomalies
- Skeletal dysplasia
- Inherited white matter disorders
- Hyperammonaemia
- Undiagnosed metabolic disorders
- Fetal hydrops
- White matter disorders and cerebral calcification - narrow panel
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Sialic acid storage disorder, infantile 269920 for gene: SLC17A5
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to SLC17A5. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SLC17A5 were set to Sialic acid storage disorder, infantile 269920
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for SLC17A5 was changed to BIALLELIC, autosomal or pseudoautosomal
Upload gene information
Sarah Leigh (Genomics England Curator)SLC17A5 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Created
Sarah Leigh (Genomics England Curator)SLC17A5 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)SLC17A5 was added to Unexplained skeletal dysplasiapanel. Sources: