Genetic epilepsy syndromesGene: PRICKLE1
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
Epilepsy progressive myoclonic, 612437
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
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.
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
Epilepsy, progressive myoclonic 1B, MIM#612437
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to PRICKLE1.
Source NHS GMS was added to PRICKLE1.
Mode of inheritance for gene: PRICKLE1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Zornitza Stark: Multiple individuals from unre
Publications for gene: PRICKLE1 were set to
Phenotypes for gene: PRICKLE1 were changed from to Epilepsy, progressive myoclonic 1B 612437
Mode of inheritance for gene: PRICKLE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: prickle1 has been classified as Green List (High Evidence).
Gene: prickle1 has been classified as Amber List (Moderate Evidence).
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to PRICKLE1. Panel: Genetic Epilepsy Syndromes
Expert Review Amber was added to PRICKLE1. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to PRICKLE1. Panel: Genetic Epilepsy Syndromes
PRICKLE1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
PRICKLE1 was created by Sarah Leigh