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  3. PCDH19
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Familial Genetic Generalised Epilepsies

Gene: PCDH19

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

3 reviews

Ellen McDonagh (Genomics England Curator)

Added 'X-linked over dominance' tag.
Created: 5 Apr 2017, 6:24 a.m.
Comment on mode of inheritance: Changed from 'other' in order to capture variants within this gene in our current tiering pipeline.
Created: 5 Apr 2017, 6:24 a.m.
Created: 5 Apr 2017, 6:24 a.m.

Panel version: 1.15

Richard Scott (Genomics England Curator)

Comment on list classification: Not quite this phenotype but if truncating variant found, is reportable.
Created: 8 May 2016, 7:03 p.m.
Created: 8 May 2016, 7:03 p.m.

Panel version: 0.11

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

X-linked restricted to females (or mosaic in males)
Created: 8 May 2016, 6:43 p.m.

Mode of inheritance
Other

Phenotypes
300088

Publications

Created: 8 May 2016, 6:43 p.m.

Panel version: 0.1

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
Phenotypes
  • 300088
Tags
x-linked-over-dominance
OMIM
300460
Clinvar variants
Variants in PCDH19
Penetrance
Complete
Publications
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 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)

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

8 May 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

8 May 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

8 May 2016, Gel status: 0

Added New Source

Richard Scott (North Thames GMC/UCL)

PCDH19 was added to Familial Genetic Generalised Epilepsiespanel. Sources: Expert list

8 May 2016, Gel status: 0

Created

Richard Scott (North Thames GMC/UCL)

PCDH19 was created by Reviewer_03