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Variant : CV613890 (GRCh37/hg19 22q11.21(chr22:18901004-21408430)) Homo sapiens

Symbol: CV613890
Name: GRCh37/hg19 22q11.21(chr22:18901004-21408430)
Condition: DiGeorge sequence [RCV000767594]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: AIFM3   ARVCF   C22orf39   CDC45   CLDN5   CLTCL1   COMT   CRKL   DGCR2   DGCR6L   DGCR8   ESS2   FAM230A   GGTLC3   GNB1L   GP1BB   GSC2   HIRA   KLHL22   LZTR1   MED15   MRPL40   P2RX6   PI4KA   PRODH   RANBP1   RIMBP3   RTL10   RTN4R   SCARF2   SEPTIN5   SERPIND1   SLC25A1   SLC7A4   SNAP29   TANGO2   TBX1   THAP7   TMEM191B   TRMT2A   TSSK2   TXNRD2   UFD1   USP41   ZDHHC8   ZNF74  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372218,901,004 - 21,408,430CLINVAR
Cytogenetic Map2222q11.21CLINVAR
Trait Synonyms: 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome); Catch22; Chromosome 22q11.2 deletion syndrome; DiGeorge anomaly; DiGeorge Syndrome; Familial third and fourth pharyngeal pouch syndrome; Hypoplasia of thymus and parathyroid; Pharyngeal pouch syndrome; Sedlackova syndrome; Third and fourth pharyngeal pouch syndrome; Thymic aplasia syndrome; Velofacial hypoplasia

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 14399561
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


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