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Genetic epilepsy syndromes

Gene: CNPY3

Green List (high evidence)

CNPY3 (canopy FGF signaling regulator 3)
EnsemblGeneIds (GRCh38): ENSG00000137161
EnsemblGeneIds (GRCh37): ENSG00000137161
OMIM: 610774, Gene2Phenotype
CNPY3 is in 3 panels

5 reviews

Louise Daugherty (Genomics England Curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Rebecca Foulger (Genomics England curator)

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

Sarah Leigh (Genomics England Curator)

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.

Zornitza Stark (Australian Genomics)

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 60 617929
OMIM
610774
Clinvar variants
Variants in CNPY3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

Removed Tag

Louise Daugherty (Genomics England Curator)

Tag watchlist was removed from gene: CNPY3.

15 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cnpy3 has been classified as Green List (High Evidence).

13 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cnpy3 has been classified as Green List (High Evidence).

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CNPY3.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CNPY3.

27 Jun 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cnpy3 has been classified as Amber List (Moderate Evidence).

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Three patients from two famili

6 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cnpy3 has been classified as Amber List (Moderate Evidence).

6 Dec 2018, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: CNPY3.

6 Dec 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CNPY3 were set to

6 Dec 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: CNPY3 was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Dec 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CNPY3 were changed from to Epileptic encephalopathy, early infantile, 60 617929

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to CNPY3. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CNPY3 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CNPY3 was created by Sarah Leigh