Intellectual disability syndromic and non-syndromic
Gene: PRICKLE2

PRICKLE2 (prickle planar cell polarity protein 2)
EnsemblGeneIds (GRCh38): ENSG00000163637
EnsemblGeneIds (GRCh37): ENSG00000163637
OMIM: 608501, Gene2Phenotype
PRICKLE2 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

LIMITED by ClinGen; however, experimental evidence appears not to have been considered.
Created: 27 Dec 2023, 5:04 a.m. | Last Modified: 27 Dec 2023, 5:11 a.m.

Panel Version: 0.5657

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related

Publications

Created: 27 Dec 2023, 5:04 a.m.
Last Modified: 27 Dec 2023, 5:11 a.m.
Panel version: 0.5654

Hazel Phillimore (Victorian Clinical Genetics Services)

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).
Sources: Literature
Created: 6 Sep 2021, 6:19 a.m.

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

PMID: 34092786

Created: 6 Sep 2021, 6:19 a.m.

Panel version: 0.4104

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber

Phenotypes

Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related

OMIM

608501

Clinvar variants

Variants in PRICKLE2

Penetrance

None

Publications

Panels with this gene