Fetal hydrops
Gene: SLC17A5EnsemblGeneIds (GRCh38): ENSG00000119899
EnsemblGeneIds (GRCh37): ENSG00000119899
OMIM: 604322, Gene2Phenotype
SLC17A5 is in 13 panels
2 reviews
Irina Adamena (Children's Clinical University Hospital)
Gene with strong evidence for fetal hydrops (PMID: 33082562)Created: 11 Apr 2024, 3:58 p.m. | Last Modified: 11 Apr 2024, 3:58 p.m.
Panel Version: 1.64
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonimmune hydrops fetalis
Publications
- PMID: 33082562
Rebecca Foulger (Genomics England curator)
PMID:10069709 (Lemyre et al., 1999) suggested that ISSD should enter the differential diagnosis of hydrops fetalis with storage disease phenotype. Hydrops fetalis was diagnosed in 2 fetuses with a diagnosis of sialic acid storage disorder. Confirmed DD gene for ISSD (OMIM:269920). >3 cases in OMIM of SLC17A5 mutations linked to ISSD (OMIM:269920).Created: 21 Dec 2016, 11:42 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Other
- Expert Review Green
- Literature
- Phenotypes
-
- Sialic acid storage disorder, infantile, 269920
- ISSD
- Hydrops fetalis
- Infantile sialic acid storage disease
- OMIM
- 604322
- Clinvar variants
- Variants in SLC17A5
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Skeletal dysplasia
- Inherited white matter disorders
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Fetal hydrops
- White matter disorders and cerebral calcification - narrow panel
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.
Added New Source
Rebecca Foulger (Genomics England curator)SLC17A5 was added to Fetal hydropspanel. Sources: Literature, Other, Expert Review Green
Created
Rebecca Foulger (Genomics England curator)SLC17A5 was created by rfoulger