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Skeletal dysplasia

Gene: SLC17A5

Green List (high evidence)

SLC17A5 (solute carrier family 17 member 5)
EnsemblGeneIds (GRCh38): ENSG00000119899
EnsemblGeneIds (GRCh37): ENSG00000119899
OMIM: 604322, Gene2Phenotype
SLC17A5 is in 16 panels

2 reviews

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Overview of phenotypic features recently published by Huizing et al. Severity correlated with level of free sialic acid (N-acetylneuraminic acid, Neu5Ac) in urine.
Created: 3 Jan 2022, 11:13 p.m. | Last Modified: 3 Jan 2022, 11:13 p.m.
Panel Version: 0.10448

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form or a slowly progressive adult form, which is prevalent in Finland and referred to as Salla disease. p.Arg39Cys is a founder Finnish variant. Multiple families reported.
Created: 14 Apr 2021, 4:44 a.m. | Last Modified: 14 Apr 2021, 4:44 a.m.
Panel Version: 0.7169

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Salla disease 604369; MONDO:0011449; Sialic acid storage disorder, infantile 269920; MONDO:0010027

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Sialic acid storage disorder, infantile 269920
OMIM
604322
Clinvar variants
Variants in SLC17A5
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC17A5 was added gene: SLC17A5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services 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