Amelogenesis imperfecta
Gene: SLC13A5EnsemblGeneIds (GRCh38): ENSG00000141485
EnsemblGeneIds (GRCh37): ENSG00000141485
OMIM: 608305, Gene2Phenotype
SLC13A5 is in 10 panels
1 review
Teresa Zhao (Victorian Clinical Genetics Services)
PMID: 24995870
Compound heterozygous and homozygous variants identified in three independent families with subclinical seizures as early as the first day of life, severe epileptic disease, and profound developmental delay with no facial dysmorphism. Subject 4 reported with hypodontia.
PMID: 26384929
Eight additional patients belonging to four different families with autosomal recessive mutations in SLC13A5, all of the reported patients were noted to have teeth hypoplasia and/or hypodontia.Created: 16 Jun 2021, 12:59 a.m. | Last Modified: 16 Jun 2021, 12:59 a.m.
Panel Version: 0.1
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 Green
- Genomics England PanelApp
- 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 Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC13A5 were changed from Kohlsch tter-T nz syndrome(KTZS); Epileptic encephalopathy, early infantile, 25 615905; hypoplastic amelogenesis imperfecta to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC13A5 was added gene: SLC13A5 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A5 were set to 27261973; 26384929; 27600704; 24995870 Phenotypes for gene: SLC13A5 were set to Kohlsch tter-T nz syndrome(KTZS); Epileptic encephalopathy, early infantile, 25 615905; hypoplastic amelogenesis imperfecta