Intellectual disability
Gene: CNPY3

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added and reviewed by Konstantinos Varvagiannis. Although there are sufficient cases to support a gene-disease association, this disorder is mainly characterised by severe epileptic encephalopathy and ID manifests secondarily to seizures.

Rating Amber, but this may be reviewed if new evidence emerges indicating that neurodevelopmental impairment precedes onset of seizures.
Created: 16 Oct 2020, 4:43 p.m. | Last Modified: 16 Oct 2020, 4:43 p.m.

Panel Version: 3.456

Created: 16 Oct 2020, 4:43 p.m.
Last Modified: 16 Oct 2020, 4:43 p.m.
Panel version: 3.456

Konstantinos Varvagiannis (Other)

Green List (high evidence)

Biallelic CNPY3 mutations cause Epileptic encephalopathy, early infantile, 60 (MIM 617929).

The phenotype including among others hypotonia, intractable seizures, DD and ID has been first reported by Mutoh et al (2018 - PMID: 29394991) in 3 subjects from 2 families. Evidence was provided for the role of the gene (incl. mouse model) and pathogenicity of the identified variants (resulting in LoF).

Another subject with similar features of hypotonia, DD, intractable epilepsy, feeding problems has been described briefly by Maddirevula et al (2019 - PMID: 30237576).
Sources: Literature
Created: 13 Jul 2020, 7:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 60 (MIM 617929)

Publications

Created: 13 Jul 2020, 7:30 p.m.

Panel version: 3.170

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

Epileptic encephalopathy, early infantile, 60 (MIM 617929)

OMIM

610774

Clinvar variants

Variants in CNPY3

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

16 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

13 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Konstantinos Varvagiannis (Other)

gene: CNPY3 was added gene: CNPY3 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CNPY3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNPY3 were set to 29394991; 30237576 Phenotypes for gene: CNPY3 were set to Epileptic encephalopathy, early infantile, 60 (MIM 617929) Penetrance for gene: CNPY3 were set to Complete Review for gene: CNPY3 was set to GREEN

Intellectual disability Gene: CNPY3