15q11.2-q13.1 Copy Number Variation

Description

The 15q11.2-q13.1 copy number variation syndrome can result in the loss or duplication of up to 20 protein-coding genes, leading to widespread effects on human development. This region includes well-studied syndromes such as Prader-Willi and Angelman.

Genomic location GRCh37/hg19

Chr15:22805313-28390339

Disorder Information from Orphanet

1. ORPHA: 739 Deletion syndrome
   176270, 615547
   Disease definition: A rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems.
   World-wide prevalence: 1-9 / 100 000
   Very frequent (99–80%) phenotypic features: No phenotypic features available.
2. ORPHA: 72 Deletion syndrome
   105830
   Disease definition: A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.
   World-wide prevalence: 1-9 / 100 000
   Very frequent (99–80%) phenotypic features: No phenotypic features available.
3. 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.
4. ORPHA: 238446 Microduplication syndrome
   608636
   Disease definition: The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.
   World-wide prevalence: <1 / 1 000 000
   Very frequent (99–80%) phenotypic features: No phenotypic features available.
5. ORPHA: 3306 Inverted duplication syndrome
   
   Disease definition: A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures.
   World-wide prevalence: 1-9 / 100 000
   Very frequent (99–80%) phenotypic features: No phenotypic features available.

Interactive Pathway Viewer

Gene Information

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
GOLGA8S	golgin A8 family member S	653061	ENSG00000261739	H3BPF8
GOLGA6L2	golgin A6 family like 2	283685	ENSG00000174450	Q8N9W4
MKRN3	makorin ring finger protein 3	7681	ENSG00000179455	Q13064
MAGEL2	MAGE family member L2	54551	ENSG00000254585	Q9UJ55
NDN	necdin, MAGE family member	4692	ENSG00000182636	Q99608
NPAP1	nuclear pore associated protein 1	23742	ENSG00000185823	Q9NZP6
SNRPN	small nuclear ribonucleoprotein polypeptide N	6638	ENSG00000128739	P63162
SNURF	SNRPN upstream open reading frame	8926	ENSG00000273173	Q9Y675
UBE3A	ubiquitin protein ligase E3A	7337	ENSG00000114062	Q05086
ATP10A	ATPase phospholipid transporting 10A (putative)	57194	ENSG00000206190	O60312
GABRB3	gamma-aminobutyric acid type A receptor subunit beta3	2562	ENSG00000166206	P28472
GABRA5	gamma-aminobutyric acid type A receptor subunit alpha5	2558	ENSG00000186297	P31644
GABRG3	gamma-aminobutyric acid type A receptor subunit gamma3	2567	ENSG00000182256	Q99928
OCA2	OCA2 melanosomal transmembrane protein	4948	ENSG00000104044	Q04671
HERC2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	8924	ENSG00000128731	O95714