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GENATLAS PHENOTYPE
last update : 31/12/2005
Symbol ATS1
Location Xq22.3
Name Alport syndrome
Corresponding gene COL4A5
Other symbol(s) ASLHN,ASLN,ATS
Main clinical features
  • a glomerular nephritis with abnormalities of G basement membrane and neurosensory deafness, including in any cases dot and fleck retinopathy
    • Genetic determination sex linked
    Related entries AMME
    Function/system disorder ear
    kidney and urinary tract
    Type disease
    Gene product
    Name collagen type IV, alpha 5, kidney restricted (COL4A5)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     mostly mutations
    abnormal splicing     mostly mutations
    duplication   other tandem duplication of 35 COL4A5 exons (French Polynesia)
    Remark(s)