16p12.2 Copy Number Variation - CNVPathwayAtlas

16p12.2 Copy Number Variation

Description

Copy number variations in the region 16p12.2 are rare, pathological mutations in the human genome. It is a risk variation for neuropsychiatric diseases like schizophrenia (Kirov et al., 2014)

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

ORPHA:485405 Triplication syndrome
OMIM:
Prevalence: <1 / 1 000 000
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.

Phenotypic features:
Obligate
(100%)		 Very frequent
(99–80%)		 Frequent
(79–30%)		 Occasional
(29–5%)		 Very rare
(<4-1%)		 Excluded
(0%)
- - - -

Molecular pathway

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Gene Information

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

Evidence