Ataxia - adult onset
Gene: SLC1A3

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

2 reviews

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Onset mostly in infancy and childhood, but adult onset has been reported
Sources: Literature
Created: 30 Jun 2020, 1:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia, type 6 MIM#612656

Created: 30 Jun 2020, 1:43 a.m.

Panel version: 0.57

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert Review Green
Literature
Victorian Clinical Genetics Services

Phenotypes

Episodic ataxia, type 6 MIM#612656

OMIM

600111

Clinvar variants

Variants in SLC1A3

Penetrance

None

Panels with this gene

History Filter Activity

30 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc1a3 has been classified as Green List (High Evidence).

30 Jun 2020, Gel status: 1

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 - adult onset. Sources: Literature Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6 MIM#612656 Review for gene: SLC1A3 was set to GREEN

Ataxia - adult onset Gene: SLC1A3