3q29 Copy Number Variation

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

ORPHA: 65286 Microdeletion syndrome
OMIM: 609425
Disease description: No description available.
World-wide prevalence: Unknown
Very frequent (99–80%) phenotypic features: Intellectual disability, Global developmental delay
ORPHA: 251038 Microduplication syndrome
OMIM: 611936
Disease description: No description available.
World-wide prevalence: Unknown
Very frequent (99–80%) phenotypic features: No phenotypic features available.

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