17q11.2 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr17:29100000-30280000

Disorder Information from Orphanet

1. ORPHA: 97685 Microdeletion syndrome
   613675
   Disease definition: 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.
   World-wide prevalence: Unknown
   Very frequent (99–80%) phenotypic features: No phenotypic features available.
2. ORPHA: 139474 Microduplication syndrome
   618874
   Disease definition: 17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
   World-wide prevalence: <1 / 1 000 000
   Very frequent (99–80%) phenotypic features: No phenotypic features available.

Interactive Pathway Viewer

Gene Information

HGNC	Gene Name	NCBI	Ensembl	UniProt
CRLF3	cytokine receptor like factor 3	51379	ENSG00000176390	Q8IUI8
ATAD5	ATPase family AAA domain containing 5	79915	ENSG00000176208	Q96QE3
TEFM	transcription elongation factor, mitochondrial	79736	ENSG00000172171	Q96QE5
ADAP2	ArfGAP with dual PH domains 2	55803	ENSG00000184060	Q9NPF8
RNF135	ring finger protein 135	84282	ENSG00000181481	Q8IUD6
NF1	neurofibromin 1	4763	ENSG00000196712	P21359
OMG	oligodendrocyte myelin glycoprotein	4974	ENSG00000126861	P23515
EVI2B	ecotropic viral integration site 2B	2124	ENSG00000185862	P34910
EVI2A	ecotropic viral integration site 2A	2123	ENSG00000126860	P22794
RAB11FIP4	RAB11 family interacting protein 4	84440	ENSG00000131242	Q86YS3
MIR365BHG	MIR365B and MIR4725 host gene	123464515	ENSG00000228768
COPRS	coordinator of PRMT5 and differentiation stimulator	55352	ENSG00000172301	Q9NQ92
UTP6	UTP6 small subunit processome component	55813	ENSG00000108651	Q9NYH9
SUZ12	SUZ12 polycomb repressive complex 2 subunit	23512	ENSG00000178691	Q15022