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  3. PRICKLE1
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Progressive Myoclonic Epilepsy

Gene: PRICKLE1

Red List (low evidence)
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, and DISPUTED for AD epilepsy.
Created: 27 Dec 2023, 4:51 a.m. | Last Modified: 27 Dec 2023, 4:51 a.m.
Panel Version: 0.18
Note most reported variants in this gene are missense with little further supportive evidence. ClinVar entries are all VOUS/LB/B.
Created: 27 Dec 2023, 4:46 a.m. | Last Modified: 27 Dec 2023, 4:46 a.m.
Panel Version: 0.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 1B, MIM# 612437

Publications

Created: 27 Dec 2023, 4:46 a.m.
Last Modified: 27 Dec 2023, 4:51 a.m.
Panel version: 0.18

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Epilepsy, progressive myoclonic 1B 612437
OMIM
608500
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 publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRICKLE1 were set to

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).

9 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PRICKLE1 was added gene: PRICKLE1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PRICKLE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B 612437