Epileptic encephalopathy
Gene: PCDH19EnsemblGeneIds (GRCh38): ENSG00000165194
EnsemblGeneIds (GRCh37): ENSG00000165194
OMIM: 300460, Gene2Phenotype
PCDH19 is in 4 panels
5 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Changed from 'other' in order to capture variants within this gene in our current tiering pipeline, after consulting with Richard Scott.Created: 5 Apr 2017, 6:25 a.m.
Comment when marking as ready: Confirmed DD gene, and all reviewers agree this gene should be green on this panel.Created: 21 Jan 2016, 11:24 a.m.
Comment on mode of inheritance: X-linked over-dominance (restricted to females or mosaic males).Created: 21 Jan 2016, 11:23 a.m.
Amy McTague (UCL Institute of Child Health)
X-linked restricted to females (or mosaic males)Created: 12 Nov 2015, 1:50 p.m.
Mode of inheritance
Other - please specify in evaluation comments
Phenotypes
Epileptic encephalopathy, early infantile, 9
Publications
- Hynes et al (2010) J Med Genet 47: 211-216
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
X-linked restricted to females (or mosaic males)Created: 12 Nov 2015, 1:14 p.m.
Mode of inheritance
Other - please specify in evaluation comments
Phenotypes
Epileptic encephalopathy, early infantile, 9
Publications
- Hynes et al (2010) J Med Genet 47: 211-216
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
X-linked restricted to females (or mosaic males)Created: 12 Nov 2015, 1:04 p.m.
Mode of inheritance
Other - please specify in evaluation comments
Phenotypes
Epileptic encephalopathy, early infantile, 9
Publications
- Hynes et al (2010) J Med Genet 47: 211-216
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
X-linked restricted to females (or mosaic males)Created: 12 Nov 2015, 12:26 p.m.
Mode of inheritance
Other - please specify in evaluation comments
Phenotypes
Epileptic encephalopathy, early infantile, 9
Publications
- Hynes et al (2010) J Med Genet 47: 211-216
Variants in this GENE are reported as part of current diagnostic practice
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
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Epileptic encephalopathy, early infantile, 9
- Tags
- OMIM
- 300460
- Clinvar variants
- Variants in PCDH19
- Penetrance
- Complete
- Publications
-
- Hynes et al (2010) J Med Genet 47: 211-216
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
History Filter Activity
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for PCDH19 was changed to Other - please provide details in the comments
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)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PCDH19 were set to Epileptic encephalopathy, early infantile, 9
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PCDH19 were set to Hynes et al (2010) J Med Genet 47: 211-216
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PCDH19 was changed to Other - please specifiy in evaluation comments
gel status update
GEL ()The Gel status was updated for this whole panel
gel status update
GEL ()The Gel status was updated for this whole panel
Upload gene information
Ellen McDonagh (Genomics England Curator)PCDH19 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)PCDH19 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)PCDH19 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)PCDH19 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert