Severe microcephaly

Gene: CAMSAP1

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 26 Sep 2024, 3:20 p.m. | Last Modified: 26 Sep 2024, 3:20 p.m.

Panel Version: 6.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

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, 7:09 p.m. | Last Modified: 22 Feb 2024, 7:09 p.m.

Panel Version: 4.62

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. Microcephaly was severe in five children from four families.

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. | Last Modified: 22 Feb 2024, 7:15 p.m.

Panel Version: 4.63

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 36283405