Table 1 Genotypes and phenotypes associated with patient’s duplication in the OMIM database

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