Hereditary ataxia

Gene: PRICKLE1

Red List (low evidence)

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

2 reviews

emma baple (Genomics England Curator)

Comment when marking as ready: limited evidence
Created: 11 Jul 2016, 4:45 a.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Limited number of familes.
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive Myoclonus Epilepsy with Ataxia

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Progressive Myoclonus Epilepsy with Ataxia
OMIM
608500
Clinvar variants
Variants in PRICKLE1
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PRICKLE1 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services