Hereditary ataxia - adult onsetGene: PRRT2
On Sheffield and Oxford panels. Dyskinesia. May be more suitable for another panel?
Created: 27 Apr 2019, 7:39 p.m.
As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
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.
Plenty of case reports in the literature - episodic ataxia and cerebellar abnormalities reported in a number of cases
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial infantile convulsions with paroxysmal dyskinesia 1, 602066, episodic kinesigenic dyskinesia, 128200
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to PRRT2.
Added phenotypes Familial infantile convulsions with paroxysmal dyskinesia 1, 602066; episodic kinesigenic dyskinesia, 128200 for gene: PRRT2
Source NHS GMS was added to PRRT2.
Source Wessex and West Midlands GLH was added to PRRT2.
Checked panel against panel constituents. Ready to promote to version 1.
Tag treatable tag was added to gene: PRRT2.
gene: PRRT2 was added gene: PRRT2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRRT2 were set to 22744660; 22101681; 22120146; 22399141 Phenotypes for gene: PRRT2 were set to SEIZURES, BENIGN FAMILIAL INFANTILE, 2; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS