Paroxysmal central nervous system disorders
Gene: SLC1A3EnsemblGeneIds (GRCh38): ENSG00000079215
EnsemblGeneIds (GRCh37): ENSG00000079215
OMIM: 600111, Gene2Phenotype
SLC1A3 is in 13 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rebecca Foulger (Genomics England curator)
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Tracy Lester (Genetics laboratory, Oxford UK)
Episodic ataxiaCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Episodic ataxia, type 6, 612656
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- Episodic ataxia, type 6, 612656
- OMIM
- 600111
- Clinvar variants
- Variants in SLC1A3
- Penetrance
- None
- 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
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: slc1a3 has been classified as Green List (High Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: SLC1A3 were changed from Episodic ataxia, type 6, 612656; EPISODIC ATAXIA, TYPE 6 to Episodic ataxia, type 6, 612656
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: SLC1A3 were changed from Episodic ataxia, type 6, 612656; EPISODIC ATAXIA, TYPE 6; Episodic Ataxia to Episodic ataxia, type 6, 612656; EPISODIC ATAXIA, TYPE 6
Set mode of inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for gene: SLC1A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to SLC1A3.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to SLC1A3.
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to SLC1A3.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Episodic ataxia, type 6, 612656; EPISODIC ATAXIA, TYPE 6; Episodic Ataxia for gene: SLC1A3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SLC1A3 was added gene: SLC1A3 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC1A3 were set to 27829685; 16116111; 19139306 Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6, 612656; EPISODIC ATAXIA, TYPE 6; Episodic Ataxia