Skeletal Muscle Channelopathies

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

5 reviews

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

Red List (low evidence)

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

Red List (low evidence)

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as green after discussion with expert reviewer Dr Emma Matthews
Created: 21 Feb 2017, 12:49 p.m.

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

Red List (low evidence)

this is not a Skeletal Muscle Channelopathies gene
Created: 10 Jan 2017, 3:49 p.m.

Ellen McDonagh (Genomics England Curator)

Is on the Brain Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, I am therefore unsure whether this should be included on this panel.
Created: 10 Jun 2016, 2:52 p.m.

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.

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).

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).

2 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

2 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

7 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene SLC1A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

7 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

SLC1A3 was added to Skeletal Muscle Channelopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services

7 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

SLC1A3 was added to Skeletal Muscle Channelopathiespanel. Sources: Radboud University Medical Center, Nijmegen