Hereditary ataxia
Gene: SLC1A3EnsemblGeneIds (GRCh38): ENSG00000079215
EnsemblGeneIds (GRCh37): ENSG00000079215
OMIM: 600111, Gene2Phenotype
SLC1A3 is in 13 panels
2 reviews
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Good evidence from OMIM and expert reviewCreated: 2 Feb 2016, 10:04 a.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Couple of different families, functional evidence for variant(s). Mode of pathogenicity: Gain-of-function?Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Episodic ataxia, type 6,
Mode of pathogenicity
Other - please provide details in the comments
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
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Episodic ataxia, type 6,
- OMIM
- 600111
- Clinvar variants
- Variants in SLC1A3
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal muscle channelopathy
- Hereditary neuropathy or pain disorder
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Monogenic hearing loss
- Hereditary neuropathy
- Brain channelopathy
- Ataxia and cerebellar anomalies - childhood onset
- Skeletal Muscle Channelopathies
- Neurodegenerative disorders, adult onset
- Hereditary ataxia, adult onset
- Hereditary ataxia
- Paroxysmal central nervous system disorders
History Filter Activity
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SLC1A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)SLC1A3 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SLC1A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)SLC1A3 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)SLC1A3 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen