1. Panels
  2. Epilepsy Plus
  3. PCDH19
STRs in panel
Prev Next
Regions in panel
Prev Next

Epilepsy Plus

Gene: PCDH19

Green List (high evidence)
PCDH19 (protocadherin 19)
EnsemblGeneIds (GRCh38): ENSG00000165194
EnsemblGeneIds (GRCh37): ENSG00000165194
OMIM: 300460, Gene2Phenotype
PCDH19 is in 4 panels

1 review

Ellen McDonagh (Genomics England Curator)

Added tag to indicate x-linked over-dominance.
Created: 5 Apr 2017, 6:26 a.m.
Created: 5 Apr 2017, 6:26 a.m.

Panel version: 0.7

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • UKGTN
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Green
Phenotypes
  • 300088
  • Epileptic encephalopathy, early infantile, 9
Tags
x-linked-over-dominance
OMIM
300460
Clinvar variants
Variants in PCDH19
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Apr 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PCDH19 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Sep 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PCDH19 was added to Epilepsy Pluspanel. Source: UKGTN PCDH19 was added to Epilepsy Pluspanel. Source: Radboud University Medical Center, Nijmegen PCDH19 was added to Epilepsy Pluspanel. Source: Expert

8 Sep 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PCDH19 was added to Epilepsy Pluspanel. Sources: Expert list,Expert Review Green

8 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PCDH19 was created by ellenmcdonagh