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Variant : CV613968 (GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)) Homo sapiens

Symbol: CV613968
Name: GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)
Condition: 4p partial monosomy syndrome [RCV000767672]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: ABLIM2   ACOX3   ADD1   ADRA2C   AFAP1   ATP5ME   BLOC1S4   C4orf48   C4orf50   CCDC96   CPLX1   CPZ   CRMP1   CTBP1   CYTL1   DGKQ   DOK7   EVC   EVC2   FAM193A   FAM53A   FGFR3   FGFRL1   GAK   GPR78   GRK4   GRPEL1   HAUS3   HGFAC   HTRA3   HTT   IDUA   JAKMIP1   KIAA0232   LETM1   LINC01587   LRPAP1   LYAR   MAEA   MAN2B2   MFSD10   MIR95   MRFAP1   MRFAP1L1   MSANTD1   MSX1   MXD4   MYL5   NAT8L   NELFA   NKX1-1   NOP14   NSD2   NSG1   OTOP1   PCGF3   PDE6B   PIGG   POLN   PPP2R2C   PSAPL1   RGS12   RNF212   RNF4   S100P   SH3BP2   SH3TC1   SLBP   SLC26A1   SLC49A3   SORCS2   SPON2   STK32B   STX18   TACC3   TADA2B   TBC1D14   TMEM128   TMEM129   TMEM175   TNIP2   TRMT44   UVSSA   WFS1   ZBTB49   ZFYVE28   ZNF141   ZNF595   ZNF718   ZNF721   ZNF732  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37475,742 - 8,672,411CLINVAR
Cytogenetic Map44p16.3-16.1CLINVAR
Trait Synonyms: Chromosome 4p syndrome; CHROMOSOME 4p16.3 DELETION SYNDROME; Mental retardation, unusual facies, and intrauterine growth retardation; Microcephaly, IUGR, Hypertelorism, Ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation; Pitt syndrome; Prenatal and postnatal growth retardation, blindness, hearing loss, dysmorphic features, epilepsy, mental retardation and absence of speech; Wittwer syndrome; Wolf syndrome; Wolf-Hirschhorn Syndrome

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 14398880
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


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