Epileptic encephalopathy
Gene: PCDH19Comment 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.
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
Variants in this GENE are reported as part of current diagnostic practice
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
Variants in this GENE are reported as part of current diagnostic practice
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
Variants in this GENE are reported as part of current diagnostic practice
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
Variants in this GENE are reported as part of current diagnostic practice
Mode of pathogenicity for PCDH19 was changed to Other - please provide details in the comments
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)
This gene has been classified as Green List (High Evidence).
Phenotypes for PCDH19 were set to Epileptic encephalopathy, early infantile, 9
Publications for PCDH19 were set to Hynes et al (2010) J Med Genet 47: 211-216
Mode of inheritance for PCDH19 was changed to Other - please specifiy in evaluation comments
The Gel status was updated for this whole panel
The Gel status was updated for this whole panel
PCDH19 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
PCDH19 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
PCDH19 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
PCDH19 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert