Intellectual disability
Gene: CYFIP1

CYFIP1 (cytoplasmic FMR1 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000273749
EnsemblGeneIds (GRCh37): ENSG00000068793
OMIM: 606322, Gene2Phenotype
CYFIP1 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

Comment on publications: PMID:39774290 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.

PMID:39774290 is a secondary publication and the relevant case described in this publication was originally from the primary publication PMID:37704042.
Created: 25 Mar 2025, 7:16 p.m. | Last Modified: 25 Mar 2025, 7:16 p.m.

Panel Version: 8.212

PMID:37704042 reported two individuals from a family with intellectual disability, autism spectrum disorder, spastic tetraparesis, and brain morphology defects. They were identified with compound heterozygous missense variants in the CYFIP1 gene (p.(Ile476Val) and p.(Pro742Leu)).

Functional work from patient fibroblasts showed deficits in actin polymerization. In addition, Drosophila knockin models for these variants exhibited abnormal brain morphology and F-actin loss, and recapitulated the core behavioural symptoms, such as deficits in social interaction and motor coordination.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Created: 25 Mar 2025, 7:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intellectual disability, MONDO:0001071

Publications

Created: 25 Mar 2025, 7:14 p.m.

Panel version: 8.211

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

Phenotypes

intellectual disability, MONDO:0001071

OMIM

606322

Clinvar variants

Variants in CYFIP1

Penetrance

None

Publications

Panels with this gene

Intellectual disability

History Filter Activity

25 Mar 2025, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: CYFIP1 were set to 37704042; 39774290

25 Mar 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CYFIP1 was added gene: CYFIP1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CYFIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYFIP1 were set to 37704042; 39774290 Phenotypes for gene: CYFIP1 were set to intellectual disability, MONDO:0001071 Review for gene: CYFIP1 was set to RED

Intellectual disability Gene: CYFIP1