10q23.1-q23.2 Copy Number Variation - CNVPathwayAtlas

10q23.1-q23.2 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr10:82045472-88931651

Cytoband Image

Disorder Information from Orphanet

  1. ORPHA: 276413 Microdeletion syndrome
    612242
    Disease definition: 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.
    World-wide prevalence: Unknown
    Very frequent (99–80%) phenotypic features: No phenotypic features available.
  2. ORPHA: 276422 Microduplication syndrome

    Disease definition: A rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.
    World-wide prevalence: Unknown
    Very frequent (99–80%) phenotypic features: No phenotypic features available.

Interactive Pathway Viewer

View on WikiPathways

Gene Information

HGNC Gene Name NCBI Ensembl UniProt
MAT1A methionine adenosyltransferase 1A 4143 ENSG00000151224 Q00266
DYDC1 DPY30 domain containing 1 143241 ENSG00000170788 Q8WWB3
DYDC2 DPY30 domain containing 2 84332 ENSG00000133665 Q96IM9
PRXL2A peroxiredoxin like 2A 84293 ENSG00000122378 Q9BRX8
TSPAN14 tetraspanin 14 81619 ENSG00000108219 Q8NG11
SH2D4B SH2 domain containing 4B 387694 ENSG00000178217 Q5SQS7
NRG3 neuregulin 3 10718 ENSG00000185737 P56975
GHITM growth hormone inducible transmembrane protein 27069 ENSG00000165678 Q9H3K2
GPR15LG G protein-coupled receptor 15 ligand 387695 ENSG00000188373 Q6UWK7
CDHR1 cadherin related family member 1 92211 ENSG00000148600 Q96JP9
LRIT2 leucine rich repeat, Ig-like and transmembrane domains 2 340745 ENSG00000204033 A6NDA9
LRIT1 leucine rich repeat, Ig-like and transmembrane domains 1 26103 ENSG00000148602 Q9P2V4
RGR retinal G protein coupled receptor 5995 ENSG00000148604 P47804
CCSER2 coiled-coil serine rich protein 2 54462 ENSG00000107771 Q9H7U1
GRID1 glutamate ionotropic receptor delta type subunit 1 2894 ENSG00000182771 Q9ULK0
WAPL WAPL cohesin release factor 23063 ENSG00000062650 Q7Z5K2
OPN4 opsin 4 94233 ENSG00000122375 Q9UHM6
LDB3 LIM domain binding 3 11155 ENSG00000122367 O75112
BMPR1A bone morphogenetic protein receptor type 1A 657 ENSG00000107779 P36894
MMRN2 multimerin 2 79812 ENSG00000173269 Q9H8L6
SNCG synuclein gamma 6623 ENSG00000173267 O76070
ADIRF adipogenesis regulatory factor 10974 ENSG00000148671 Q15847
FAM25A family with sequence similarity 25 member A 643161 ENSG00000188100 B3EWG3
GLUD1 glutamate dehydrogenase 1 2746 ENSG00000148672 P00367
SHLD2 shieldin complex subunit 2 54537 ENSG00000122376 Q86V20