Hereditary ataxia
Gene: SLC1A3Comment when marking as ready: Good evidence from OMIM and expert reviewCreated: 2 Feb 2016, 10:04 a.m.
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
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene SLC1A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SLC1A3 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene SLC1A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SLC1A3 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
SLC1A3 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen