Intellectual disability
Gene: CAMSAP1

CAMSAP1 (calmodulin regulated spectrin associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000130559
EnsemblGeneIds (GRCh37): ENSG00000130559
OMIM: 613774, Gene2Phenotype
CAMSAP1 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 2:57 p.m. | Last Modified: 26 Sep 2024, 2:57 p.m.

Panel Version: 7.41

Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Created: 22 Feb 2024, 7:07 p.m. | Last Modified: 22 Feb 2024, 7:07 p.m.

Panel Version: 5.458

Seven children from five unrelated families were identified with either homozygous or compound heterozygous CAMSAP1 variants and were reported with a severe neurodevelopmental disorder apparent from infancy. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe or profound global developmental delay, cortical visual impairment, and seizures.

This gene has been associated with relevant phenotypes in both OMIM (MIM #620316) and in Gene2Phenotype (with 'moderate' rating in the DD panel).
Sources: Literature
Created: 22 Feb 2024, 7:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316

Publications

36283405

Created: 22 Feb 2024, 7:05 p.m.

Panel version: 7.41

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Literature

Phenotypes

Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316

OMIM

613774

Clinvar variants

Variants in CAMSAP1

Penetrance

None

Publications

36283405

Panels with this gene