16p11.2-distal Copy Number Variation

ORPHA: 261222 Microdeletion syndrome
613444
Disease definition: Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.
World-wide prevalence: Unknown
Very frequent (99–80%) phenotypic features: No phenotypic features available.

HGNC	Gene Name	NCBI	Ensembl	UniProt
ATXN2L	ataxin 2 like	11273	ENSG00000168488	Q8WWM7
TUFM	Tu translation elongation factor, mitochondrial	7284	ENSG00000178952	P49411
SH2B1	SH2B adaptor protein 1	25970	ENSG00000178188	Q9NRF2
ATP2A1	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1	487	ENSG00000196296	O14983
RABEP2	rabaptin, RAB GTPase binding effector protein 2	79874	ENSG00000177548	Q9H5N1
CD19	CD19 molecule	930	ENSG00000177455	P15391
NFATC2IP	nuclear factor of activated T cells 2 interacting protein	84901	ENSG00000176953	Q8NCF5
SPNS1	SPNS lysolipid transporter 1, lysophospholipid	83985	ENSG00000169682	Q9H2V7
LAT	linker for activation of T cells	27040	ENSG00000213658	O43561