Hereditary ataxia with onset in adulthood
Gene: KCNA1
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Multiple variants reported in the literature - seems to be a report of a large deletion including mulitple other genes however this does not provide adequate evidence for haploinsuffiencyCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic ataxia/myokymia syndrome, 160120
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Episodic ataxia/myokymia syndrome, 160120 for gene: KCNA1
Source NHS GMS was added to KCNA1.
Source Wessex and West Midlands GLH was added to KCNA1.
Checked panel against panel constituents. Ready to promote to version 1.
Tag treatable tag was added to gene: KCNA1.
gene: KCNA1 was added gene: KCNA1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNA1 were set to 17575281 Phenotypes for gene: KCNA1 were set to EPISODIC ATAXIA, TYPE 1; Episodic ataxia/myokymia syndrome; myokymia with periodic ataxia