7q11.23 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr7:72744454-74142513

Disorder Information from Orphanet

1. ORPHA: 96121 Microduplication syndrome
   OMIM: 609757
   Disease description: No description available.
   World-wide prevalence: Unknown
   Very frequent (99–80%) phenotypic features: Delayed speech and language development
2. ORPHA: 904 Deletion syndrome
   OMIM: 194050
   Disease description: No description available.
   World-wide prevalence: Unknown
   Very frequent (99–80%) phenotypic features: Wide mouth, Macroglossia, Thick lower lip vermilion, Everted lower lip vermilion, Narrow face, Coarse facial features, Epicanthus, Pointed chin, Broad forehead, Long philtrum, Micrognathia, High forehead, Low-set, posteriorly rotated ears, Macrotia, Protruding ear, Wide nasal bridge, Abnormality of the neck, Blepharophimosis, Depression, Anxiety, Intellectual disability, Ataxia, Gait disturbance, Dysmetria, Tremor, Hyperreflexia, Failure to thrive in infancy, Abnormality of the voice, Hoarse voice, Abnormality of the cardiovascular system, Abdominal pain, Abnormality of extrapyramidal motor function, Gait imbalance, Abnormality of speech or vocalization, Phonophobia, Abnormality of pelvic girdle bone morphology, Hypercalcemia, Short nose, Involuntary movements, Short stature, Elfin facies, High hypermetropia, Dysgraphia, Hyperacusis, Open bite, Abnormal social behavior, Abnormal nervous system morphology, Overfriendliness, Periorbital edema

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