Early onset or syndromic epilepsy
Gene: PCDH19
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
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
Comment on list classification: Not quite this phenotype but if truncating variant found, is reportable.Created: 8 May 2016, 7:03 p.m.
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.
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
Source Wessex and West Midlands GLH was added to PCDH19.
Source NHS GMS was added to PCDH19.
Richard Scott: X-linked restricted to females
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to PCDH19. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to PCDH19. Panel: Genetic Epilepsy Syndromes
PCDH19 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,Radboud University Medical Center, Nijmegen,UKGTN
PCDH19 was created by Sarah Leigh