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Epileptic encephalopathy

Gene: PCDH19

Green List (high evidence)

PCDH19 (protocadherin 19)
EnsemblGeneIds (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.
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.
21 Jan 2016, 11:24 a.m.
Comment on mode of inheritance: X-linked over-dominance (restricted to females or mosaic males).
21 Jan 2016, 11:23 a.m.

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

X-linked restricted to females (or mosaic males)
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)

Green List (high evidence)

X-linked restricted to females (or mosaic males)
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)

Green List (high evidence)

X-linked restricted to females (or mosaic males)
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)

Green List (high evidence)

X-linked restricted to females (or mosaic males)
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
x-linked-over-dominance
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

5 Apr 2017, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for PCDH19 was changed to Other - please provide details in the comments

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)

21 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PCDH19 were set to Epileptic encephalopathy, early infantile, 9

21 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PCDH19 were set to Hynes et al (2010) J Med Genet 47: 211-216

21 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PCDH19 was changed to Other - please specifiy in evaluation comments

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

PCDH19 was added to Epileptic encephalopathypanel. Sources: Expert Review Green

1 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PCDH19 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

1 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PCDH19 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PCDH19 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert