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  3. SLC1A3
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Ataxia - paediatric

Gene: SLC1A3

Green List (high evidence)
SLC1A3 (solute carrier family 1 member 3)
EnsemblGeneIds (GRCh38): ENSG00000079215
EnsemblGeneIds (GRCh37): ENSG00000079215
OMIM: 600111, Gene2Phenotype
SLC1A3 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported.
Created: 10 Sep 2020, 8:31 a.m. | Last Modified: 10 Sep 2020, 8:31 a.m.
Panel Version: 0.4300

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia, type 6, MIM# 612656

Publications

Created: 10 Sep 2020, 8:31 a.m.
Last Modified: 10 Sep 2020, 8:31 a.m.
Panel version: Imported from Mendeliome panel version 0.4300

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia, type 6
  • Episodic ataxia type 6, 612656
OMIM
600111
Clinvar variants
Variants in SLC1A3
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC1A3 was added gene: SLC1A3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6; Episodic ataxia type 6, 612656