7q11.23 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr7:72744454-74142513

Disorder Information from Orphanet

1. ORPHA: 96121 Microduplication syndrome
   609757
   Disease definition: 7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild to moderate intellectual disability (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.
   World-wide prevalence: Unknown
   Very frequent (99–80%) phenotypic features: No phenotypic features available.
2. ORPHA: 904 Deletion syndrome
   194050
   Disease definition: A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, long philtrum, wide mouth, full lips and mild micrognathia.
   World-wide prevalence: Unknown
   Very frequent (99–80%) phenotypic features: No phenotypic features available.

Interactive Pathway Viewer

Gene Information

HGNC	Gene Name	NCBI	Ensembl	UniProt
FKBP6	FKBP prolyl isomerase family member 6 (inactive)	8468	ENSG00000077800	O75344
FZD9	frizzled class receptor 9	8326	ENSG00000188763	O00144
BAZ1B	bromodomain adjacent to zinc finger domain 1B	9031	ENSG00000009954	Q9UIG0
BCL7B	BAF chromatin remodeling complex subunit BCL7B	9275	ENSG00000106635	Q9BQE9
TBL2	transducin beta like 2	26608	ENSG00000106638	Q9Y4P3
MLXIPL	MLX interacting protein like	51085	ENSG00000009950	Q9NP71
VPS37D	VPS37D subunit of ESCRT-I	155382	ENSG00000176428	Q86XT2
DNAJC30	DnaJ heat shock protein family (Hsp40) member C30	84277	ENSG00000176410	Q96LL9
BUD23	BUD23 rRNA methyltransferase and ribosome maturation factor	114049	ENSG00000071462	O43709
STX1A	syntaxin 1A	6804	ENSG00000106089	Q16623
ABHD11	abhydrolase domain containing 11	83451	ENSG00000106077	Q8NFV4
CLDN3	claudin 3	1365	ENSG00000165215	O15551
CLDN4	claudin 4	1364	ENSG00000189143	O14493
METTL27	methyltransferase like 27	155368	ENSG00000165171	Q8N6F8
TMEM270	transmembrane protein 270	135886	ENSG00000175877	Q6UE05
ELN	elastin	2006	ENSG00000049540	P15502
LIMK1	LIM domain kinase 1	3984	ENSG00000106683	P53667
EIF4H	eukaryotic translation initiation factor 4H	7458	ENSG00000106682	Q15056
LAT2	linker for activation of T cells family member 2	7462	ENSG00000086730	Q9GZY6
RFC2	replication factor C subunit 2	5982	ENSG00000049541	P35250
CLIP2	CAP-Gly domain containing linker protein 2	7461	ENSG00000106665	Q9UDT6
GTF2IRD1	GTF2I repeat domain containing 1	9569	ENSG00000006704	Q9UHL9
GTF2I	general transcription factor IIi	2969	ENSG00000263001	P78347