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Variant : CV614041 (GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)) Homo sapiens

Symbol: CV614041
Name: GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)
Condition: 22q13.3 deletion syndrome [RCV000767745]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: A4GALT   ACR   ADM2   ALG12   ARFGAP3   ARHGAP8   ARSA   ATP5MGL   ATXN10   BIK   BRD1   CDPF1   CELSR1   CERK   CHKB   CPT1B   CRELD2   CYB5R3   CYP2D6   DENND6B   EFCAB6   FAM118A   FBLN1   GRAMD4   GTSE1   HDAC10   IL17REL   KIAA0930   KLHDC7B   LMF2   MAPK11   MAPK12   MAPK8IP2   MCAT   MIOX   MIRLET7A3   MIRLET7B   MLC1   MOV10L1   MPPED1   NAGA   NCAPH2   NDUFA6   NFAM1   NUP50   ODF3B   PACSIN2   PANX2   PARVB   PARVG   PHETA2   PHF21B   PIM3   PKDREJ   PLXNB2   PNPLA3   PNPLA5   POLDIP3   PPARA   PPP6R2   PRR34   PRR5   PRR5-ARHGAP8   RIBC2   RRP7A   RTL6   SAMM50   SBF1   SCO2   SCUBE1   SELENOO   SERHL2   SHANK3   SHISAL1   SMC1B   SMDT1   SULT4A1   SYCE3   TAFA5   TBC1D22A   TCF20   TRABD   TRMU   TSPO   TTC38   TTLL1   TTLL12   TTLL8   TUBGCP6   TYMP   UPK3A   WBP2NL   WNT7B   ZBED4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372242,416,026 - 51,181,759CLINVAR
Cytogenetic Map2222q13.2-13.33CLINVAR
Trait Synonyms: Phelan-McDermid syndrome; TELOMERIC 22q13 MONOSOMY SYNDROME



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14398882
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.