16p13.11 Copy Number Variation

Copy number variations in the region 16p13.11 are risks for neuropsychiatric diseases like schizophrenia.

ORPHA: 261236 Microdeletion syndrome

Disease definition: 16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.
World-wide prevalence: 1-9 / 100 000
Very frequent (99–80%) phenotypic features: No phenotypic features available.
ORPHA: 261243 Microduplication syndrome

Disease definition: 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.
World-wide prevalence: Unknown
Very frequent (99–80%) phenotypic features: No phenotypic features available.

HGNC	Gene Name	NCBI	Ensembl	UniProt
BMERB1	bMERB domain containing 1	89927	ENSG00000166780	Q96MC5
MARF1	meiosis regulator and mRNA stability factor 1	9665	ENSG00000166783	Q9Y4F3
NDE1	nudE neurodevelopment protein 1	54820	ENSG00000072864	Q9NXR1
MYH11	myosin heavy chain 11	4629	ENSG00000133392	P35749
CEP20	centrosomal protein 20	123811	ENSG00000133393	Q96NB1
ABCC1	ATP binding cassette subfamily C member 1 (ABCC1 blood group)	4363	ENSG00000103222	P33527
ABCC6	ATP binding cassette subfamily C member 6	368	ENSG00000091262	O95255