11p11.2 Copy Number Variation - CNVPathwayAtlas

11p11.2 Copy Number Variation

Description

A deletion in 11p11.2 can cause the Potocki-Shaffer syndrome which is characterised by malformations in the heart, kidney and urinary tract.

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

ORPHA:52022 Deletion syndrome
OMIM: 601224
Prevalence: <1 / 1 000 000
Definition:

A rare partial autosomal monosomy characterized by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioral abnormalities, myopia, strabismus, and sensorineural hearing loss, among others.

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

Molecular pathway

View on WikiPathways

Gene Information

HGNC Gene Name NCBI Ensembl UniProt
ALKBH3 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase 221120 ENSG00000166199 Q96Q83
C11orf96 chromosome 11 open reading frame 96 387763 ENSG00000187479 Q7Z7L8
ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) 84680 ENSG00000110455 Q96QU6
EXT2 exostosin glycosyltransferase 2 2132 ENSG00000151348 Q93063
ALX4 ALX homeobox 4 60529 ENSG00000052850 Q9H161
CD82 CD82 molecule 3732 ENSG00000085117 P27701
TSPAN18 tetraspanin 18 90139 ENSG00000157570 Q96SJ8
TP53I11 tumor protein p53 inducible protein 11 9537 ENSG00000175274 O14683
PRDM11 PR/SET domain 11 56981 ENSG00000019485 Q9NQV5
SYT13 synaptotagmin 13 57586 ENSG00000019505 Q7L8C5
CHST1 carbohydrate sulfotransferase 1 8534 ENSG00000175264 O43916
SLC35C1 solute carrier family 35 member C1 55343 ENSG00000181830 Q96A29
CRY2 cryptochrome circadian regulator 2 1408 ENSG00000121671 Q49AN0
MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 9479 ENSG00000121653 Q9UQF2
FREY1 Frey regulator of sperm-oocyte fusion 1 143678 ENSG00000234776 C9JXX5
PEX16 peroxisomal biogenesis factor 16 9409 ENSG00000121680 Q9Y5Y5
LARGE2 LARGE xylosyl- and glucuronyltransferase 2 120071 ENSG00000165905 Q8N3Y3
PHF21A PHD finger protein 21A 51317 ENSG00000135365 Q96BD5

Evidence