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  2. Ataxia - paediatric
  3. PRICKLE1
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Ataxia - paediatric

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.
Created: 27 Dec 2023, 4:54 a.m. | Last Modified: 27 Dec 2023, 4:54 a.m.
Panel Version: 1.15
Note most reported variants are missense with little further supportive evidence and ClinVar variants in this gene are all VOUS/LB/B.
Created: 27 Dec 2023, 4:44 a.m. | Last Modified: 27 Dec 2023, 4:44 a.m.
Panel Version: 1.14
Ataxia is a feature of this condition.
Created: 12 Sep 2020, 7:19 a.m. | Last Modified: 12 Sep 2020, 7:19 a.m.
Panel Version: 0.249

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 1B, MIM# 612437

Publications

Created: 12 Sep 2020, 7:19 a.m.
Last Modified: 12 Sep 2020, 7:19 a.m.
Panel version: 1.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Progressive myoclonic epilepsy 1B, 612437
  • Progressive Myoclonus Epilepsy with Ataxia
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).

12 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prickle1 has been classified as Green List (High Evidence).

12 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRICKLE1 were set to

19 Dec 2019, 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 Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRICKLE1 were set to Progressive myoclonic epilepsy 1B, 612437; Progressive Myoclonus Epilepsy with Ataxia