17p11.2 Copy Number Variation - CNVPathwayAtlas

17p11.2 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr17:16812771-20211017

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Disorder Information from Orphanet

  1. ORPHA: 819 Microdeletion syndrome
    182290
    Disease definition: A rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal).
    World-wide prevalence: 1-9 / 100 000
    Very frequent (99–80%) phenotypic features: No phenotypic features available.
  2. ORPHA: 1713 Microduplication syndrome
    610883
    Disease definition: 17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.
    World-wide prevalence: Unknown
    Very frequent (99–80%) phenotypic features: No phenotypic features available.

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Gene Information

HGNC Gene Name NCBI Ensembl UniProt
TNFRSF13B TNF receptor superfamily member 13B 23495 ENSG00000240505 O14836
MPRIP myosin phosphatase Rho interacting protein 23164 ENSG00000133030 Q6WCQ1
PLD6 phospholipase D family member 6 201164 ENSG00000179598 Q8N2A8
FLCN folliculin 201163 ENSG00000154803 Q8NFG4
COPS3 COP9 signalosome subunit 3 8533 ENSG00000141030 Q9UNS2
NT5M 5',3'-nucleotidase, mitochondrial 56953 ENSG00000205309 Q9NPB1
MED9 mediator complex subunit 9 55090 ENSG00000141026 Q9NWA0
RASD1 ras related dexamethasone induced 1 51655 ENSG00000108551 Q9Y272
PEMT phosphatidylethanolamine N-methyltransferase 10400 ENSG00000133027 Q9UBM1
RAI1 retinoic acid induced 1 10743 ENSG00000108557 Q7Z5J4
SREBF1 sterol regulatory element binding transcription factor 1 6720 ENSG00000072310 P36956
TOM1L2 target of myb1 like 2 membrane trafficking protein 146691 ENSG00000175662 Q6ZVM7
DRC3 dynein regulatory complex subunit 3 83450 ENSG00000171962 Q9H069
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 91647 ENSG00000171953 Q8N5M1
GID4 GID complex subunit 4 homolog 79018 ENSG00000141034 Q8IVV7
DRG2 developmentally regulated GTP binding protein 2 1819 ENSG00000108591 P55039
MYO15A myosin XVA 51168 ENSG00000091536 Q9UKN7
ALKBH5 alkB homolog 5, RNA demethylase 54890 ENSG00000091542 Q6P6C2
LLGL1 LLGL scribble cell polarity complex component 1 3996 ENSG00000131899 Q15334
FLII FLII actin remodeling protein 2314 ENSG00000177731 Q13045
MIEF2 mitochondrial elongation factor 2 125170 ENSG00000177427 Q96C03
TOP3A DNA topoisomerase III alpha 7156 ENSG00000177302 Q13472
SMCR8 SMCR8-C9orf72 complex subunit 140775 ENSG00000176994 Q8TEV9
SHMT1 serine hydroxymethyltransferase 1 6470 ENSG00000176974 P34896