Cerebral Palsy
Gene: SLC13A5EnsemblGeneIds (GRCh38): ENSG00000141485
EnsemblGeneIds (GRCh37): ENSG00000141485
OMIM: 608305, Gene2Phenotype
SLC13A5 is in 10 panels
1 review
Luisa Weiss (University of Adelaide)
Two large case studies with one patient described each harboring homozygous SLC13A5 variants, however, in PMID 34540776 this variant was defined as a VUS rather than a pathogenic mutation.
In other described cases epilepsy and ID seem to be the main phenotypic features, while ataxia and spasticity have been desribed.
Sources: LiteratureCreated: 31 Jul 2023, 4:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
- OMIM
- 608305
- Clinvar variants
- Variants in SLC13A5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc13a5 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc13a5 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: SLC13A5 was added gene: SLC13A5 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A5 were set to 34364746; 34540776 Phenotypes for gene: SLC13A5 were set to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 Review for gene: SLC13A5 was set to AMBER