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Genetic epilepsy syndromes

Gene: PRICKLE2

Red List (low evidence)

PRICKLE2 (prickle planar cell polarity protein 2)
EnsemblGeneIds (GRCh38): ENSG00000163637
EnsemblGeneIds (GRCh37): ENSG00000163637
OMIM: 608501, Gene2Phenotype
PRICKLE2 is in 4 panels

6 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

PRICKLE2 possibly assoc with myoclonic epilepsy - Tao et al, 2011 and Sandford et al, 2016 - sister and brother with severe prog myoclonic epilepsy - 2 missense variants - in the later paper these sibs were found to have compound het POLG variants which explained the phenotype.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
Unknown

Phenotypes
Seizures

Publications

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Details

Sources
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Expert
  • Expert Review Red
OMIM
608501
Clinvar variants
Variants in PRICKLE2
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PRICKLE2.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PRICKLE2.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

26 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to PRICKLE2. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PRICKLE2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PRICKLE2 was created by Sarah Leigh