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Genetic epilepsy syndromes

Gene: PCDH19

Green List (high evidence)

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

8 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Mosaic males and carrier females affected. Alzami et al, 2015 -1 case with primary microcephaly and dev delay.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

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

Phenotypes
Epileptic encephalopathy, early infantile, 300088

Publications

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.

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 9
OMIM
300460
Clinvar variants
Variants in PCDH19
Penetrance
None
Publications
  • Hynes et al (2010) J Med Genet 47: 211-216
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PCDH19.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PCDH19.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Richard Scott: X-linked restricted to females

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to PCDH19. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to PCDH19. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

PCDH19 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,Radboud University Medical Center, Nijmegen,UKGTN

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

PCDH19 was created by Sarah Leigh