This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: SLC17A5
SLC17A5 (solute carrier family 17 member 5)
EnsemblGeneIds (GRCh38): ENSG00000119899
EnsemblGeneIds (GRCh37): ENSG00000119899
OMIM: 604322, Gene2Phenotype
SLC17A5 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000119899
EnsemblGeneIds (GRCh37): ENSG00000119899
OMIM: 604322, Gene2Phenotype
SLC17A5 is in 13 panels
1 review
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, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sialic acid storage disorder, infantile 269920
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Sialic acid storage disorder, infantile 269920
- OMIM
- 604322
- Clinvar variants
- Variants in SLC17A5
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Intellectual disability
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Inherited white matter disorders
- Hyperammonaemia
- White matter disorders and cerebral calcification - narrow panel
- Skeletal dysplasia
- Ataxia and cerebellar anomalies - narrow panel
- Fetal hydrops
- Childhood onset dystonia, chorea or related movement disorder
- Lysosomal storage disorder
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: SLC17A5 was added gene: SLC17A5 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile 269920