Brain channelopathy
Gene: SLC1A3
SLC1A3 (solute carrier family 1 member 3)
EnsemblGeneIds (GRCh38): ENSG00000079215
EnsemblGeneIds (GRCh37): ENSG00000079215
OMIM: 600111, Gene2Phenotype
SLC1A3 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000079215
EnsemblGeneIds (GRCh37): ENSG00000079215
OMIM: 600111, Gene2Phenotype
SLC1A3 is in 13 panels
3 reviews
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Changed complete penetrance to incompleteCreated: 18 Jan 2017, 3:10 p.m.
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
Heterozygous missense mutations described in 3 families with episodic ataxia. Reduced penetranceCreated: 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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- EPISODIC ATAXIA, TYPE 6
- OMIM
- 600111
- Clinvar variants
- Variants in SLC1A3
- Penetrance
- Incomplete
- Publications
- 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
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