Genes in panel

Hereditary ataxia - adult onset

Gene: PRICKLE1

Amber List (moderate evidence)

PRICKLE1 (prickle planar cell polarity protein 1)
EnsemblGeneIds (GRCh38): ENSG00000139174
EnsemblGeneIds (GRCh37): ENSG00000139174
OMIM: 608500, Gene2Phenotype
PRICKLE1 is in 8 panels

4 reviews

Sarah Leigh (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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

Phenotypes
Epilepsy, progressive myoclonic 1B, MIM# 612437

Publications

Louise Daugherty (Genomics England Curator)

I don't know

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.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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

Phenotypes
Progressive myoclonic epilepsy 1B, 612437

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
  • Hereditary ataxia v1.148
Phenotypes
  • Progressive myoclonic epilepsy 1B OMIM:612437
  • epilepsy, progressive myoclonic, 1B MONDO:0012904
OMIM
608500
Clinvar variants
Variants in PRICKLE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_phenotype was removed from gene: PRICKLE1.

9 Mar 2022, Gel status: 2

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Amber was added to PRICKLE1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

26 May 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

26 May 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PRICKLE1 were set to

26 May 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_phenotype tag was added to gene: PRICKLE1.

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Progressive myoclonic epilepsy 1B, 612437 for gene: PRICKLE1

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PRICKLE1.

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to PRICKLE1.

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Implica

15 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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