Severe microcephaly
Gene: CAMSAP1
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: LiteratureCreated: 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
Gene: camsap1 has been classified as Amber List (Moderate Evidence).
Gene: camsap1 has been classified as Red List (Low Evidence).
Tag Q1_24_promote_green tag was added to gene: CAMSAP1.
gene: CAMSAP1 was added gene: CAMSAP1 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAMSAP1 were set to 36283405 Phenotypes for gene: CAMSAP1 were set to Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316 Review for gene: CAMSAP1 was set to GREEN