Hydrops fetalis
Gene: SLC17A5EnsemblGeneIds (GRCh38): ENSG00000119899
EnsemblGeneIds (GRCh37): ENSG00000119899
OMIM: 604322, Gene2Phenotype
SLC17A5 is in 16 panels
1 review
Abhijit Kulkarni (Healius Pathology)
Recurrent nonimmune hydrops fetalis as a presentation of sialic acid storage disease was documented by Lefebvre et al. (PMID: 10546100).
Infantile free sialic acid storage disease (ISSD) (OMIM #269920) is a severe form of autosomal recessive sialic acid storage disease. ISSD is caused by mutations in SLC17A5 (OMIM #604322), which encodes sialin, a lysosomal-membrane sialic acid transporter.
Danda et al (2022) report of a woman with two pregnancies with Homozygous pathogenic variants in SLC17A5, for fetuses presenting with non-immune hydrops, and infantogram showing extensive bone stippling.Created: 27 Mar 2022, 11:50 p.m. | Last Modified: 27 Mar 2022, 11:50 p.m.
Panel Version: 0.238
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INFANTILE SIALIC ACID STORAGE DISEASE; ISSD (#MIM: 269920)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Sialic acid storage disorder, infantile, MIM# 269920
- 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
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 Sialic acid storage disorder, infantile, MIM# 269920
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 Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC17A5 was set to Unknown