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GENATLAS PHENOTYPE
last update : 26-10-2018
Symbol CTM
Location 16q22.1
HGNC id 2508
Name cataract, congenital, Marner type
Other name(s)
  • cataract 5, multiple types
    • Corresponding gene HSF4
    Other symbol(s) CAM, CZM, CTRCT5
    Main clinical features lamellar and progressive cataract
    Genetic determination autosomal dominant
    autosomal recessive
    Related entries including juvenile cataracts with anterior segment abnormalities
    Function/system disorder eye
    Type disease
    Gene product
    Name heat shock transcription factor 4
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein  
    abnormal splicing   other in the 5' splice site of intron 12 (c.1327+4A-->G), which causes the skipping of exon 12
    Remark(s)