Lysosomal Storage Disorder
Gene: SLC17A5EnsemblGeneIds (GRCh38): ENSG00000119899
EnsemblGeneIds (GRCh37): ENSG00000119899
OMIM: 604322, Gene2Phenotype
SLC17A5 is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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: 0.186
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
- Victorian Clinical Genetics Services
- Phenotypes
-
- Salla disease 604369
- MONDO:0011449
- Sialic acid storage disorder, infantile 269920
- MONDO:0010027
- Tags
- OMIM
- 604322
- Clinvar variants
- Variants in SLC17A5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Macrocephaly_Megalencephaly
- Regression
- Skeletal dysplasia
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag founder tag was added to gene: SLC17A5.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc17a5 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC17A5 were changed from to Salla disease 604369; MONDO:0011449; Sialic acid storage disorder, infantile 269920; MONDO:0010027
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SLC17A5 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SLC17A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC17A5 was added gene: SLC17A5 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC17A5 was set to Unknown