Table 1.

Genotypes and phenotypes associated with patient’s duplication in the OMIM database

Gene	CTCF	CNOT1		VPS4A	GNAO1		VAC14	RSPRY1		CYLD				IRX5	ZNF423
OMIM	604,167	604,917		609,982	139,311		604,632	616,585		605,018				606,195	604,557
Cytogenetic	16q22.1	16q21		16q22.1	16q13		16q22.1-q22.2	16q13		16q12.1				16q12.2	16q12.1
Inheritance	AD	AD;	AD	AD	AD;	AD	AR	AR		AD				AR	AD, AR;	AD, AR
Phenotype	Intellectual developmental disorder, autosomal dominant 21	Holoprosencephaly 12, with or without pancreatic agenesis;	Vissers-Bodmer syndrome	CIMDAG syndrome	Developmental and epileptic encephalopathy 17	Neurodevelopmental disorder with involuntary movements	Striatonigral degeneration, childhood-onset	Spondyloepimetaphyseal dysplasia	Faden-Alkuraya type	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Brooke-Spiegler syndrome	Cylindromatosis, familial	Trichoepithelioma, multiple familial, 1	Hamamy syndrome	Joubert syndrome 19	Nephronophthisis 14
Dysfunction of Gene Product	DNA-binding transcription factor; regulating gene expression and chromatin organization	the central scaffolding protein (in)directly binding to all CCR4-NOT partners		critical enzyme regulating endosomal sorting complexes required for transport (ESCRT) function	encodes Gαo, the α subunit of Go; are involved as modulators or transducers in various transmembrane signaling systems		a trimolecular complex that tightly regulates the level of phosphatidylinositol 3,5-bisphosphate [PI (3,5) P2]	encodes a hypothetical RING and SPRY domain-containing protein		a ubiquitin hydrolase; specifically cleaves ‘Lys-63’- and linear ‘Met-1’-linked polyubiquitin chains and is involved in NF-kappa-B activation and TNF-alpha-induced necroptosis				Involved in craniofacial and gonadal development; the regulation of human ventricular depolarization and cardiac electrical conduction	a central role in BMP signaling and olfactory neurogenesis
a	1	1		1	0.99		0.99	0.99		0.98				0.98	0.96

^agnomAD (v2.1.1) pTriplo, pTriplo scores ≥ 0.94 indicate that the average effect sizes of duplications are as strong as the loss-of-function of genes known to be constrained against protein truncating variants [9]