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Intellectual disability

Gene: CNPY3

No list

CNPY3 (canopy FGF signaling regulator 3)
EnsemblGeneIds (GRCh38): ENSG00000137161
EnsemblGeneIds (GRCh37): ENSG00000137161
OMIM: 610774, Gene2Phenotype
CNPY3 is in 4 panels

1 review

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
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

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