17p11.2 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr17:16812771-20211017

Disorder Information from Orphanet

1. ORPHA: 819 Microdeletion syndrome
   OMIM: 182290
   Disease description: No description available.
   World-wide prevalence: 1-9 / 100 000
   Very frequent (99–80%) phenotypic features: Abnormality of the dentition, Brachycephaly, Broad forehead, Recurrent otitis media, Wide nasal bridge, Deeply set eye, Upslanted palpebral fissure, Synophrys, Taurodontia, Delayed eruption of primary teeth, Abnormal repetitive mannerisms, Anxiety, Delayed speech and language development, Brachydactyly, Intellectual disability, Hypotonia, Global developmental delay, Hyporeflexia, Obesity, Hoarse voice, Frontal bossing, Abnormality of speech or vocalization, Sleep abnormality, Depressed nasal bridge, Abnormal tracheobronchial morphology, Attention deficit hyperactivity disorder, Tented upper lip vermilion, Midface retrusion, Abnormal pineal melatonin secretion, Self-injurious behavior, Large face
2. ORPHA: 1713 Microduplication syndrome
   OMIM: 610883
   Disease description: No description available.
   World-wide prevalence: Unknown
   Very frequent (99–80%) phenotypic features: Abnormality of the pharynx, Autism, Hypotonia, Intellectual disability, mild, Dysarthria, Global developmental delay, Failure to thrive, Aphasia, Expressive language delay, Abnormality of chromosome segregation, Attention deficit hyperactivity disorder, Echolalia, Sleep apnea

Interactive Pathway Viewer

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