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Hereditary ataxia with onset in adulthood
Gene: PRICKLE1

PRICKLE1 (prickle planar cell polarity protein 1)
EnsemblGeneIds (GRCh38): ENSG00000139174
EnsemblGeneIds (GRCh37): ENSG00000139174
OMIM: 608500, Gene2Phenotype
PRICKLE1 is in 6 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

Created: 26 May 2021, 10:22 a.m.
Last Modified: 26 May 2021, 10:22 a.m.
Panel version: 2.144

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

20301774

Created: 12 Sep 2020, 7:23 a.m.
Last Modified: 12 Sep 2020, 7:23 a.m.
Panel version: 2.9

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.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

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

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
NHS GMS
Wessex and West Midlands GLH
Hereditary ataxia v1.148

Phenotypes

Epilepsy, progressive myoclonic 1B, OMIM:612437

OMIM

608500

Clinvar variants

Variants in PRICKLE1

Penetrance

None

Publications

20301774

Panels with this gene

History Filter Activity

23 Jan 2024, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: prickle1 has been classified as Red List (Low Evidence).

23 Jan 2024, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PRICKLE1 were changed from Progressive myoclonic epilepsy 1B OMIM:612437; epilepsy, progressive myoclonic, 1B MONDO:0012904 to Epilepsy, progressive myoclonic 1B, OMIM:612437

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