16p12.2 Copy Number Variation

ORPHA: 485405 Triplication syndrome

Disease definition: 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.
World-wide prevalence: <1 / 1 000 000
Very frequent (99–80%) phenotypic features: No phenotypic features available.

HGNC	Gene Name	NCBI	Ensembl	UniProt
UQCRC2	ubiquinol-cytochrome c reductase core protein 2	7385	ENSG00000140740	P22695
PDZD9	PDZ domain containing 9	255762	ENSG00000155714	Q8IXQ8
MOSMO	modulator of smoothened	730094	ENSG00000185716	Q8NHV5
VWA3A	von Willebrand factor A domain containing 3A	146177	ENSG00000175267	A6NCI4
SDR42E2	short chain dehydrogenase/reductase family 42E, member 2	100288072	ENSG00000183921	A6NKP2
EEF2K	eukaryotic elongation factor 2 kinase	29904	ENSG00000103319	O00418
POLR3E	RNA polymerase III subunit E	55718	ENSG00000058600	Q9NVU0
CDR2	cerebellar degeneration related protein 2	1039	ENSG00000140743	Q01850