Hereditary ataxia with onset in adulthood
Gene: PRRT2

PRRT2 (proline rich transmembrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000167371
EnsemblGeneIds (GRCh37): ENSG00000167371
OMIM: 614386, Gene2Phenotype
PRRT2 is in 13 panels

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

I don't know

On Sheffield and Oxford panels. Dyskinesia. May be more suitable for another panel?
Created: 27 Apr 2019, 7:39 p.m.

Created: 27 Apr 2019, 7:39 p.m.

Panel version: 1.11

Louise Daugherty (Genomics England Curator)

I don't know

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.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.188

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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

Phenotypes
Familial infantile convulsions with paroxysmal dyskinesia 1, 602066, episodic kinesigenic dyskinesia, 128200

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

London North GLH
NHS GMS
Wessex and West Midlands GLH
Expert Review Green
Brain channelopathy v1.46
Hereditary ataxia v1.148

Phenotypes

CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
SEIZURES, BENIGN FAMILIAL INFANTILE, 2
EPISODIC KINESIGENIC DYSKINESIA 1
Familial infantile convulsions with paroxysmal dyskinesia 1, 602066
dystonia and occasionally hemiplegic migraine and epilepsy
episodic kinesigenic dyskinesia
episodic kinesigenic dyskinesia, 128200

Tags

treatable

OMIM

614386

Clinvar variants

Variants in PRRT2

Penetrance

None

Publications

Panels with this gene