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Epileptic encephalopathy

Gene: PRICKLE2

Red List (low evidence)

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

4 reviews

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Details

Sources
  • Expert Review Red
  • Expert
OMIM
608501
Clinvar variants
Variants in PRICKLE2
Penetrance
Complete
Panels with this gene

History Filter Activity

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PRICKLE2 was added to Epileptic encephalopathypanel. Source: Expert Review Red

13 Nov 2015, Gel status: 0

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PRICKLE2 was added to Epileptic encephalopathypanel. Sources: Expert