Skeletal dysplasia
Gene: SLC17A5EnsemblGeneIds (GRCh38): ENSG00000119899
EnsemblGeneIds (GRCh37): ENSG00000119899
OMIM: 604322, Gene2Phenotype
SLC17A5 is in 16 panels
2 reviews
Seb Lunke (Victorian Clinical Genetics Services)
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)
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
-
- 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
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