17q12 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr17:34815904-36217432

Disorder Information from Orphanet

1. ORPHA: 261265 Microdeletion syndrome
   614527
   Disease definition: 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.
   World-wide prevalence: <1 / 1 000 000
   Very frequent (99–80%) phenotypic features: No phenotypic features available.
2. ORPHA: 261272 Microduplication syndrome
   614526
   Disease definition: 17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.
   World-wide prevalence: <1 / 1 000 000
   Very frequent (99–80%) phenotypic features: No phenotypic features available.

Interactive Pathway Viewer

Gene Information

HGNC	Gene Name	NCBI	Ensembl	UniProt
ZNHIT3	zinc finger HIT-type containing 3	9326	ENSG00000273611	Q15649
MYO19	myosin XIX	80179	ENSG00000278259	Q96H55
PIGW	phosphatidylinositol glycan anchor biosynthesis class W	284098	ENSG00000277161	Q7Z7B1
GGNBP2	gametogenetin binding protein 2	79893	ENSG00000278311	Q9H3C7
DHRS11	dehydrogenase/reductase 11	79154	ENSG00000278535	Q6UWP2
MRM1	mitochondrial rRNA methyltransferase 1	79922	ENSG00000278619	Q6IN84
LHX1	LIM homeobox 1	3975	ENSG00000273706	P48742
AATF	apoptosis antagonizing transcription factor	26574	ENSG00000275700	Q9NY61
ACACA	acetyl-CoA carboxylase alpha	31	ENSG00000278540	Q13085
C17orf78	chromosome 17 open reading frame 78	284099	ENSG00000278505	Q8N4C9
TADA2A	transcriptional adaptor 2A	6871	ENSG00000276234	O75478
DUSP14	dual specificity phosphatase 14	11072	ENSG00000276023	O95147
SYNRG	synergin gamma	11276	ENSG00000275066	Q9UMZ2
DDX52	DExD-box helicase 52	11056	ENSG00000278053	Q9Y2R4
HNF1B	HNF1 homeobox B	6928	ENSG00000275410	P35680