10q23.1-q23.2 Copy Number Variation - CNVs Booklet

10q23.1-q23.2 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr10:82045472-88931651

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Disorder Information from Orphanet

  1. ORPHA: 276413 Microdeletion syndrome
    OMIM: 612242
    Disease description: No description available.
    World-wide prevalence: Unknown
    Very frequent (99–80%) phenotypic features: Macrocephaly, Intellectual disability, Global developmental delay, Language impairment
  2. ORPHA: 276422 Microduplication syndrome
    OMIM:
    Disease description: No description available.
    World-wide prevalence: Unknown
    Very frequent (99–80%) phenotypic features: Deeply set eye

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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