Paroxysmal central nervous system disorders
Gene: SLC1A3
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
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
Gene: slc1a3 has been classified as Green List (High Evidence).
Phenotypes for gene: SLC1A3 were changed from Episodic ataxia, type 6, 612656; EPISODIC ATAXIA, TYPE 6 to Episodic ataxia, type 6, 612656
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
Mode of inheritance for gene: SLC1A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source NHS GMS was added to SLC1A3.
Source London North GLH was added to SLC1A3.
Source Wessex and West Midlands GLH was added to SLC1A3.
Added phenotypes Episodic ataxia, type 6, 612656; EPISODIC ATAXIA, TYPE 6; Episodic Ataxia for gene: SLC1A3
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