15q13.2-q13.3 Copy Number Variation

ORPHA: 199318 Microdeletion syndrome
612001
Disease definition: A rare chromosomal anomaly characterized by a high risk for the occurrence of a wide range of neurodevelopmental anomalies including global developmental delay (DD), intellectual disability (ID), and behavioral issues of varying severity. 15q13.3 microdeletion does not lead to a clinically specific phenotype.
World-wide prevalence: Unknown
Very frequent (99–80%) phenotypic features: No phenotypic features available.

HGNC	Gene Name	NCBI	Ensembl	UniProt
CHRFAM7A	CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion	89832	ENSG00000166664	Q494W8
GOLGA8R	golgin A8 family member R	101059918	ENSG00000186399	I6L899
GOLGA8Q	golgin A8 family member Q	727909	ENSG00000178115	H3BV12
GOLGA8H	golgin A8 family member H	728498	ENSG00000261794	P0CJ92
ARHGAP11B	Rho GTPase activating protein 11B	89839	ENSG00000285077	Q3KRB8
FAN1	FANCD2 and FANCI associated nuclease 1	22909	ENSG00000198690	Q9Y2M0
MTMR10	myotubularin related protein 10	54893	ENSG00000166912	Q9NXD2
TRPM1	transient receptor potential cation channel subfamily M member 1	4308	ENSG00000134160	Q7Z4N2
KLF13	KLF transcription factor 13	51621	ENSG00000169926	Q9Y2Y9
OTUD7A	OTU deubiquitinase 7A	161725	ENSG00000169918	Q8TE49
CHRNA7	cholinergic receptor nicotinic alpha 7 subunit	1139	ENSG00000175344	P36544