Adult onset neurodegenerative disorder
Gene: KCNA1
Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Onset usually in childhood - red?Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
myokymia with periodic ataxia; Episodic ataxia/myokymia syndrome,; EPISODIC ATAXIA, TYPE 1
Primarily assoictaed with ataxia.Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
myokymia with periodic ataxia; Episodic ataxia/myokymia syndrome,; EPISODIC ATAXIA, TYPE 1
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
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. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Source Expert Review Red was added to KCNA1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to KCNA1.
Source Yorkshire and North East GLH was added to KCNA1.
Source NHS GMS was added to KCNA1.
Source London North GLH was added to KCNA1.
Louise Daugherty: Comment on phenotypes: amended
Tag treatable tag was added to gene: KCNA1.
Added phenotypes Episodic ataxia/myokymia syndrome, for gene: KCNA1
gene: KCNA1 was added gene: KCNA1 was added to Neurodegenerative disorders - adult onset. Sources: 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 myokymia with periodic ataxia; EPISODIC ATAXIA, TYPE 1