15q11.2-q13.1 Copy Number Variation - CNVs Booklet

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

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Disorder Information from Orphanet

  1. ORPHA: 739 Deletion syndrome
    OMIM: 176270, 615547
    Disease description: No description available.
    World-wide prevalence: 1-9 / 100 000
    Very frequent (99–80%) phenotypic features: Cryptorchidism, Anxiety, Infertility, Hypotonia, Motor delay, Growth delay, Dysphagia, Short stature, Feeding difficulties in infancy, Abnormal temper tantrums
  2. ORPHA: 72 Deletion syndrome
    OMIM: 105830
    Disease description: No description available.
    World-wide prevalence: 1-9 / 100 000
    Very frequent (99–80%) phenotypic features: Microcephaly, Atypical behavior, Autistic behavior, Inappropriate laughter, Delayed speech and language development, Hyperactivity, Seizure, Ataxia, Motor delay, Tremor, Cerebral cortical atrophy, Broad-based gait, Abnormality of speech or vocalization, EEG abnormality, Sleep abnormality, Poor speech, Intellectual disability, severe, Severe global developmental delay, Self-injurious behavior
  3. ORPHA: 261183 Microdeletion syndrome
    OMIM: 615656
    Disease description: No description available.
    World-wide prevalence: Unknown
    Very frequent (99–80%) phenotypic features: No phenotypic features available.
  4. ORPHA: 238446 Microduplication syndrome
    OMIM: 608636
    Disease description: No description available.
    World-wide prevalence: <1 / 1 000 000
    Very frequent (99–80%) phenotypic features: Obsessive-compulsive behavior, Delayed speech and language development, Intellectual disability, Hypotonia, Global developmental delay, Attention deficit hyperactivity disorder
  5. ORPHA: 3306 Inverted duplication syndrome
    OMIM:
    Disease description: No description available.
    World-wide prevalence: 1-9 / 100 000
    Very frequent (99–80%) phenotypic features: Autistic behavior, Generalized hypotonia, Joint hypermobility, Drooling

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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