Early onset or syndromic epilepsy

Gene: CNPY3

As a result of watchlist tag audit the watchlist tag was removed from CNPY3- this is now a green gene with sufficient evidence/review

Created: 13 Jan 2020, 1:31 p.m. | Last Modified: 13 Jan 2020, 1:31 p.m.

Panel Version: 2.0

Green List (high evidence)

Three patients with EIEE from two families but based on a single publication (PMID 29394991)

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 60, 617929

Publications

• 29394991

I don't know

As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green. Helen Lord (Oxford Medical Genetics Laboratories) notes that there are two further 2019 paper supporting inclusion. Promoted from Amber to Green.

Created: 13 Aug 2019, 3:57 p.m. | Last Modified: 15 Aug 2019, 8:04 a.m.

Panel Version: 1.222

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: Alison Callaway and John Taylor. 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

Comment on list classification: Re-reviewed gene:disease association for CNPY3 during curation of GMS panel. Amber rating is still appropriate: Probable Disease confidence rating in DD-G2P for EARLY ONSET EPILEPTIC ENCEPHALOPATHY, and literature evidence remains at 3 patients from 2 unrelated families from one paper (PMID:29394991) with limited segregation data from one of the families.

Created: 27 Jun 2019, 2:17 p.m. | Last Modified: 27 Jun 2019, 2:17 p.m.

Panel Version: 1.77

PMID:29394991: In 3 patients from 2 unrelated Japanese families with EIEE, Mutoh et al. 2018 identified homozygous or compound het variants in CNPY3. The variants segregated with the disease in one family. For patient 3, parental DNA and patient tissues were not available.

Created: 27 Jun 2019, 2:14 p.m. | Last Modified: 27 Jun 2019, 2:14 p.m.

Panel Version: 1.76

Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least three variants identified in two unrelated cases.

Created: 6 Dec 2018, 12:41 p.m.

I don't know

Three patients from two families reported in the literature with bi-allelic variants in this gene. Merits Amber.

Created: 10 Aug 2018, 4:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 60, MIM#617929

Publications

• 29394991

Variants in this GENE are reported as part of current diagnostic practice