Hereditary ataxia
Gene: KCNA1Comment when marking as ready: Good evidence from OMIM and expert reviewCreated: 2 Feb 2016, 10:02 a.m.
Fine. Good evidence in lit, positive in our cohort. 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/myokymia syndrome,
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 KCNA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KCNA1 was added to Hereditary ataxiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene KCNA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KCNA1 was added to Hereditary ataxiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
KCNA1 was added to Hereditary ataxiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen