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Genetic epilepsy syndromes

Gene: PRICKLE1

Green List (high evidence)

PRICKLE1 (prickle planar cell polarity protein 1)
EnsemblGeneIds (GRCh38): ENSG00000139174
EnsemblGeneIds (GRCh37): ENSG00000139174
OMIM: 608500, Gene2Phenotype
PRICKLE1 is in 7 panels

8 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Both AR and AD variants reported (PMID: 21276947 - for AD). AR progressive myoclonic epilepsy 1B (EPM1B). Affected members of the families reported by Berkovic et al, 2005 (consang Israeli-Arab family - 8 affecteds), Straussberg et al, 2005 (consang Israeli-Arab family - 3 affected sibs) and El Shanti et al, 2006 (consang Jordanian family - 4 affected sibs) - same hom variant R104Q - suggests founder effect. Tao et al 2001 - 2 diff het variants R114H and Y472H in 2 unrelated patients with myoclonic epilepsy. The authours suggest both hom and het variants result in seizures suggesting a dosge effect. No functional work done. Bosoi et al, 2011 - 7 rare missense het variants associated with individuals with neural tube defects.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Epilepsy progressive myoclonic, 612437

Publications

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: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on mode of inheritance: Updated MOI from biallelic to BOTH monoallelic and biallelic based on PMID:21276947. Tao et al. 2011 sequenced PRICKLE1 (and PRICKLE2) in 88 unrelated patients with myoclonus epilepsy and found two patients with heterozygous missense mutations in PRICKLE1: p.Arg144His and p.Tyr472His. The variants were not found in control data sets. The authors therefore suggest that the heterozygous PRICKLE1 variants are also associated with myoclonus epilepsy.
Created: 11 Jul 2019, 8:32 a.m. | Last Modified: 11 Jul 2019, 8:32 a.m.
Panel Version: 1.152

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases.
Created: 16 Oct 2018, 3:37 p.m.

Zornitza Stark (Australian Genomics)

Multiple individuals from unrelated families described with bi-allelic variants in this gene and a seizure disorder.
Created: 19 Aug 2018, 11:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 1B, MIM#612437

Publications

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

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

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert
Phenotypes
  • Epilepsy, progressive myoclonic 1B 612437
OMIM
608500
Clinvar variants
Variants in PRICKLE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PRICKLE1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PRICKLE1.

11 Jul 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: PRICKLE1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Multiple individuals from unre

7 Nov 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PRICKLE1 were set to

7 Nov 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PRICKLE1 were changed from to Epilepsy, progressive myoclonic 1B 612437

7 Nov 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: PRICKLE1 was changed from to BIALLELIC, autosomal or pseudoautosomal

7 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: prickle1 has been classified as Green List (High Evidence).

16 Oct 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: prickle1 has been classified as Amber List (Moderate Evidence).

26 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to PRICKLE1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to PRICKLE1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to PRICKLE1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PRICKLE1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PRICKLE1 was created by Sarah Leigh