3q29 Copy Number Variation

3q29 copy number variation (duplication or deletion) is a rare genetic condition that results in a variety of psychiatric problems.

Assembly:

Coordinates:

ORPHA:65286 Microdeletion syndrome

OMIM: 609425

Prevalence: Unknown

Definition:

A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

Phenotypic features:

Obligate (100%)	Very frequent (99–80%)	Frequent (79–30%)	Occasional (29–5%)	Very rare (<4-1%)	Excluded (0%)
-	Intellectual disability Global developmental delay	Everted lower lip vermilion Microcephaly Short philtrum Low-set ears Macrotia Prominent nasal bridge Delayed speech and language development	Hypospadias Horseshoe kidney Abnormality of the dentition Orofacial cleft High palate Macrocephaly Narrow face Long face Facial asymmetry Downslanted palpebral fissures Cataract Microphthalmia Dental crowding Psychosis Depression Autism Aggressive behavior Anxiety Pectus excavatum Pectus carinatum Abnormality of skin pigmentation Tapered finger Gait disturbance Failure to thrive Hypernasal speech Patent ductus arteriosus Subvalvular aortic stenosis Gastroesophageal reflux Pulmonary arterial hypertension Short nose Clinodactyly of the 5th finger Attention deficit hyperactivity disorder Bipolar affective disorder Six lumbar vertebrae Joint hypermobility	-	-

ORPHA:251038 Microduplication syndrome

OMIM: 611936

Prevalence: Unknown

Definition:

3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.

Phenotypic features:

Obligate (100%)	Very frequent (99–80%)	Frequent (79–30%)	Occasional (29–5%)	Very rare (<4-1%)	Excluded (0%)
-	-	Abnormality of the dentition Microcephaly Downslanted palpebral fissures Intellectual disability Hypotonia Global developmental delay Obesity	Cleft palate High palate Large fontanelles Macrocephaly High forehead Hearing impairment Low-set ears Wide nasal bridge Short neck Cataract Aniridia Microphthalmia Iris coloboma Sclerocornea Seizure Craniosynostosis Ventricular septal defect Toe syndactyly Camptodactyly of toe Sandal gap Deep philtrum Ectopic anus Biparietal narrowing	-	-

HGNC	Gene Name	NCBI	Ensembl	UniProt
TFRC	transferrin receptor	7037	ENSG00000072274	P02786
ZDHHC19	zDHHC palmitoyltransferase 19	131540	ENSG00000163958	Q8WVZ1
SLC51A	solute carrier family 51 member A	200931	ENSG00000163959	Q86UW1
PCYT1A	phosphate cytidylyltransferase 1A, choline	5130	ENSG00000161217	P49585
DYNLT2B	dynein light chain Tctex-type 2B	255758	ENSG00000213123	Q8WW35
TM4SF19	transmembrane 4 L six family member 19	116211	ENSG00000145107	Q96DZ7
UBXN7	UBX domain protein 7	26043	ENSG00000163960	O94888
RNF168	ring finger protein 168	165918	ENSG00000163961	Q8IYW5
SMCO1	single-pass membrane protein with coiled-coil domains 1	255798	ENSG00000214097	Q147U7
WDR53	WD repeat domain 53	348793	ENSG00000185798	Q7Z5U6
FBXO45	F-box protein 45	200933	ENSG00000174013	P0C2W1
NRROS	negative regulator of reactive oxygen species	375387	ENSG00000174004	Q86YC3
PIGX	phosphatidylinositol glycan anchor biosynthesis class X	54965	ENSG00000163964	Q8TBF5
CEP19	centrosomal protein 19	84984	ENSG00000174007	Q96LK0
PAK2	p21 (RAC1) activated kinase 2	5062	ENSG00000180370	Q13177
SENP5	SUMO specific peptidase 5	205564	ENSG00000119231	Q96HI0
NCBP2	nuclear cap binding protein subunit 2	22916	ENSG00000114503	P52298
PIGZ	phosphatidylinositol glycan anchor biosynthesis class Z (Gwada blood group)	80235	ENSG00000119227	Q86VD9
MELTF	melanotransferrin	4241	ENSG00000163975	P08582
DLG1	discs large MAGUK scaffold protein 1	1739	ENSG00000075711	Q12959