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Fetal anomalies

Gene: SLC13A5

Green List (high evidence)

SLC13A5 (solute carrier family 13 member 5)
EnsemblGeneIds (GRCh38): ENSG00000141485
EnsemblGeneIds (GRCh37): ENSG00000141485
OMIM: 608305, Gene2Phenotype
SLC13A5 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 7 unrelated families reported. Microcephaly is a feature.
Created: 16 Jun 2021, 9:44 a.m. | Last Modified: 28 Feb 2022, 8:56 a.m.
Panel Version: 0.4381

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; MONDO:0014392

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
  • MONDO:0014392
OMIM
608305
Clinvar variants
Variants in SLC13A5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc13a5 has been classified as Green List (High Evidence).

28 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC13A5 were changed from EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; MONDO:0014392

28 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC13A5 were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC13A5 was added gene: SLC13A5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC13A5 were set to EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE