Brain channelopathy

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 15 panels

3 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Changed complete penetrance to incomplete
Created: 18 Jan 2017, 3:10 p.m.

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Heterozygous missense mutations described in 3 families with episodic ataxia. Reduced penetrance
Created: 6 Jan 2017, 10:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
episodic ataxia type 6

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green as this gene is on the Brain Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 3:19 p.m.

History Filter Activity

21 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Jan 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1. January 23 2017

23 Jan 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SLC1A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

18 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Jan 2017, Gel status: 4

Set publications

Arianna Tucci (Genomics England Curator)

Publications for SLC1A3 were set to 16116111; 27829685; 19139306

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC1A3 was added to Brain channelopathypanel. Sources: UKGTN