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Regression
Gene: PRICKLE1

PRICKLE1 (prickle planar cell polarity protein 1)
EnsemblGeneIds (GRCh38): ENSG00000139174
EnsemblGeneIds (GRCh37): ENSG00000139174
OMIM: 608500, Gene2Phenotype
PRICKLE1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

LIMITED by ClinGen for AR PME, DISPUTED for AD epilepsy.
Created: 27 Dec 2023, 4:53 a.m. | Last Modified: 27 Dec 2023, 4:53 a.m.

Panel Version: 0.539

Multiple reports of bi- and mono-allelic cases. However, most reported variants are missense, with little further supporting information. Some of the mono-allelic variants are present in asymptomatic relatives.
Note ClinVar variants in this gene are all VOUS/LB/B.
Created: 27 Dec 2023, 4:41 a.m. | Last Modified: 27 Dec 2023, 4:41 a.m.

Panel Version: 0.535

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 1B, MIM# 612437

Publications

Created: 27 Dec 2023, 4:41 a.m.
Last Modified: 27 Dec 2023, 4:41 a.m.
Panel version: 0.539

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Epilepsy, progressive myoclonic 1B, MIM# 612437

OMIM

Clinvar variants

Variants in PRICKLE1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

27 Dec 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prickle1 has been classified as Amber List (Moderate Evidence).

27 Dec 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRICKLE1 were changed from to Epilepsy, progressive myoclonic 1B, MIM# 612437

27 Dec 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRICKLE1 were set to

27 Dec 2023, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRICKLE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

27 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prickle1 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRICKLE1 was added gene: PRICKLE1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRICKLE1 was set to Unknown