Hereditary ataxia - adult onsetGene: PRICKLE1
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.
Panel Version: 2.144
The tag Q2_21_phenotype has been added to this gene, because variants in this gene are associated with childhood onset of ataxia.
Created: 26 May 2021, 10:22 a.m. | Last Modified: 26 May 2021, 10:22 a.m.
Panel Version: 2.62
Typically a childhood onset disorder.
Created: 12 Sep 2020, 7:23 a.m. | Last Modified: 12 Sep 2020, 7:23 a.m.
Panel Version: 2.9
Epilepsy, progressive myoclonic 1B, MIM# 612437
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.
Looks like three families reported in the literature, all homozygous for the same missense variant, however good functional evidence provided for variant. Cautiously Green
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Progressive myoclonic epilepsy 1B, 612437
Tag Q2_21_phenotype was removed from gene: PRICKLE1.
Source Expert Review Amber was added to PRICKLE1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Phenotypes for gene: PRICKLE1 were changed from Progressive myoclonic epilepsy 1B, 612437; Progressive Myoclonus Epilepsy with Ataxia to Progressive myoclonic epilepsy 1B OMIM:612437; epilepsy, progressive myoclonic, 1B MONDO:0012904
Publications for gene: PRICKLE1 were set to
Tag Q2_21_phenotype tag was added to gene: PRICKLE1.
Gene: prickle1 has been classified as Green List (High Evidence).
Added phenotypes Progressive myoclonic epilepsy 1B, 612437 for gene: PRICKLE1
Source NHS GMS was added to PRICKLE1.
Source Wessex and West Midlands GLH was added to PRICKLE1.
Louise Daugherty: Comment on phenotypes: Implica
gene: PRICKLE1 was added gene: PRICKLE1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRICKLE1 were set to Progressive Myoclonus Epilepsy with Ataxia