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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 26-09-2024
Symbol VCF
Location 22q11.21
HGNC id 12664
Name velocardiofacial syndrome
Other name(s) Shprintzen VCF syndrome
Corresponding gene SLC7A4 , TBX1 , HIRA
Other symbol(s) CATCH22, DEL22q11
Main clinical features
  • including velopharyngeal incompetence with diverse psychiatric disorders
  • also, including chronic schizophrenia with paranoid delusion, bipolar, attention deficit with hyperactivity, obsessive -compulsive disorder and juvenile pseudo-rheumatoid arthritis, overlapping deletion in DiGeorge syndrome (see DGCR, SCZD4)
  • skeletal and cranial anomalies, including a shortened posterior skull base length, platybasia, and dysmorphic vertebrae
    • Genetic determination autosomal dominant
    Function/system disorder congenital malformation
    Type disease
    Gene product
    Name tup-like enhancer of split gene 1 (HIRA)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function result in gain of function, possibly through stabilization of the protein dimer DNA complex
    Remark(s)
    Genotype/Phenotype correlations hyperprolinemia associated with Met allele of COMT gene is a risk factor for psychosis in VCF