Intellectual disability
Gene: PRICKLE2

PRICKLE2 (prickle planar cell polarity protein 2)
EnsemblGeneIds (GRCh38): ENSG00000163637
EnsemblGeneIds (GRCh37): ENSG00000163637
OMIM: 608501, Gene2Phenotype
PRICKLE2 is in 2 panels

5 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 2:22 p.m. | Last Modified: 14 Mar 2022, 2:22 p.m.

Panel Version: 3.1519

Created: 14 Mar 2022, 2:22 p.m.
Last Modified: 14 Mar 2022, 2:22 p.m.
Panel version: 3.1519

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber. This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.
Created: 11 Oct 2021, 12:51 p.m. | Last Modified: 11 Oct 2021, 12:51 p.m.

Panel Version: 3.1343

Created: 11 Oct 2021, 12:51 p.m.
Last Modified: 11 Oct 2021, 12:51 p.m.
Panel version: 3.1343

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Six subjects from four unrelated families with neurodevelopmental delay, behavioural difficulties and epilepsy had heterozygous variants, either de novo or segregating with disease.

Two missense were de novo, c.122 C>T; p.(Pro41Leu) and c.680C>G; p.(Thr227Arg); one nonsense variant was de novo (c.214 C>T; p.(Arg72*); and one frameshift variant segregated with the disorder in three affected females (c.1286_1287delGT; p.(Ser429Thrfs*56)).

Loss-of-function (homozygous) variants have been shown to cause seizures in flies; and both heterozygous and homozygous mice have shown behavioral abnormalities including altered social interaction, learning abnormalities, and behavioral inflexibility (PMID: 21276947).
Created: 13 Sep 2021, 8:08 a.m. | Last Modified: 13 Sep 2021, 8:08 a.m.

Panel Version: 3.1262

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder; global developmental delay; behavioural difficulties ± epilepsy; autistic features; attention deficit hyperactive disorder; psychiatric symptoms

Publications

34092786

Created: 13 Sep 2021, 8:08 a.m.
Last Modified: 13 Sep 2021, 8:08 a.m.
Panel version: 3.1262

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_omim_20150205_epilepsies . Main mutation mechanism : NA
Created: 27 Jul 2017, 8:08 p.m.

Evidences key, gene present in following gene lists and main mutation mechanism : omim_20150205_epilepsies; sfari_20150206; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 1:11 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

omim.org

Created: 2 Aug 2017, 9:50 p.m.

Panel version: 1.354

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Phenotype not relevant to ID panel, gene involved in epilepsy
Created: 29 Nov 2017, 2:10 p.m.

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 1:21 p.m.

Created: 20 Jul 2017, 1:21 p.m.

Panel version: 1.465

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green

Phenotypes

Neurodevelopmental disorder
global developmental delay

Tags

gene-checked

OMIM

608501

Clinvar variants

Variants in PRICKLE2

Penetrance

Complete

Publications

34092786

Panels with this gene

History Filter Activity

10 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: PRICKLE2.

14 Mar 2022, Gel status: 3