Skeletal Muscle Channelopathies
Gene: SLC1A3EnsemblGeneIds (GRCh38): ENSG00000079215
EnsemblGeneIds (GRCh37): ENSG00000079215
OMIM: 600111, Gene2Phenotype
SLC1A3 is in 13 panels
6 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: Leaving as green for consistency with the GMS Skeletal muscle channelopathy panel (panel 542).Created: 20 Jul 2021, 2:07 p.m. | Last Modified: 20 Jul 2021, 2:07 p.m.
Panel Version: 1.37
Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)
Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as green after discussion with expert reviewer Dr Emma MatthewsCreated: 21 Feb 2017, 12:49 p.m.
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
this is not a Skeletal Muscle Channelopathies geneCreated: 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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Episodic ataxia, type 6, 612656
- Episodic Ataxia
- OMIM
- 600111
- Clinvar variants
- Variants in SLC1A3
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
- Monogenic hearing loss
- Hereditary ataxia
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Skeletal muscle channelopathy
- Adult onset neurodegenerative disorder
History Filter Activity
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: slc1a3 has been classified as Green List (High Evidence).
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.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene SLC1A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)SLC1A3 was added to Skeletal Muscle Channelopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)SLC1A3 was added to Skeletal Muscle Channelopathiespanel. Sources: Radboud University Medical Center, Nijmegen