Alternating Hemiplegia and Hemiplegic Migraine
Gene: PRRT2

PRRT2 (proline rich transmembrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000167371
EnsemblGeneIds (GRCh37): ENSG00000167371
OMIM: 614386, Gene2Phenotype
PRRT2 is in 11 panels

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

PRRT2 pathogenic variants can occasionally cause hemiplegic migraine (HM). Greater than 20 probands have been reported with HM as the presenting/only feature of the phenotype, mostly involving the hotspot c.649/650. Reported segregation of HM and other migraine types as a feature of the condition in multiple families.
Created: 4 Jun 2021, 2:52 a.m. | Last Modified: 4 Jun 2021, 2:52 a.m.

Panel Version: 0.45

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hemiplegic migraine

Publications

Created: 4 Jun 2021, 2:52 a.m.
Last Modified: 4 Jun 2021, 2:52 a.m.
Panel version: 0.45

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Gene is associated with paroxysmal disorders but not specifically with alternating hemiplegia/migraine. Included due to phenotypic overlap.
Created: 4 Oct 2020, 9:04 a.m. | Last Modified: 4 Oct 2020, 9:04 a.m.

Panel Version: 0.18

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic kinesigenic dyskinesia 1, MIM# 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066

Publications

24928127

Created: 4 Oct 2020, 9:04 a.m.
Last Modified: 4 Oct 2020, 9:04 a.m.
Panel version: 0.18

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Episodic kinesigenic dyskinesia 1, 128200; Seizures, benign familial infantile, 2, 605751

Publications

PMID 22101681
PMID 22744660
PMID 31124310
PMID 26561923

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

Created: 20 Dec 2019, 2:34 a.m.
Last Modified: 20 Dec 2019, 2:34 a.m.
Panel version: 0.0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066
Episodic kinesigenic dyskinesia 1, 128200
Seizures, benign familial infantile, 2, 605751

OMIM

614386

Clinvar variants

Variants in PRRT2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: prrt2 has been classified as Green List (High Evidence).

4 Oct 2020, Gel status: 2