Early onset or syndromic epilepsy

Gene: PCDH19

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

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

• 19752159

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.

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

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

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

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