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Episodic Ataxia

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 3 unrelated families with episodic ataxia and in vitro functional assays suggesting both gain of function and loss of function is a mechanism of disease. Mouse models demonstrate that the gene is important for brain function.
Created: 30 Jun 2020, 1:38 a.m. | Last Modified: 30 Jun 2020, 1:38 a.m.
Panel Version: 0.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia, type 6 MIM#612656

Publications

Created: 30 Jun 2020, 1:38 a.m.
Last Modified: 30 Jun 2020, 1:38 a.m.
Panel version: 0.10

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: 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

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: SLC1A3 were set to

29 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 Episodic Ataxia. Sources: Expert list 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