15q11.2 Copy Number Variation

ORPHA: 261183 Microdeletion syndrome
615656
Disease definition: 15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).
World-wide prevalence: Unknown
Very frequent (99–80%) phenotypic features: No phenotypic features available.

HGNC	Gene Name	NCBI	Ensembl	UniProt
TUBGCP5	tubulin gamma complex component 5	114791	ENSG00000275835	Q96RT8
CYFIP1	cytoplasmic FMR1 interacting protein 1	23191	ENSG00000273749	Q7L576
NIPA2	NIPA magnesium transporter 2	81614	ENSG00000140157	Q8N8Q9
NIPA1	NIPA magnesium transporter 1	123606	ENSG00000170113	Q7RTP0