COL4A3

collagen type IV alpha 3 chain
OMIM: 120070
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780, ALPORT SYNDROME AUTOSOMAL DOMINANT 104200
Green
in Haematuria
R-numbers: R194
Signed-off version 2.4
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Alport syndrome, autosomal recessive, 203780, Hematuria, benign familial, 141200, Alport syndrome, autosomal dominant, 104200, Alport Syndrome, Hematuria, Benign Familial, Alport Syndrome, X-Linked, Alport Syndrome, Autosomal Recessive, Alport Syndrome, Autosomal Dominant, thin glomerular basement membrane nephropathy or Alport syndrome, Alport syndrome, autosomal dominant, Alport syndrome, autosomal recessive, Alport Syndrome, (originally on Alport syndrome gene panel)
R-numbers: R195
Signed-off version 2.32
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Alport syndrome, autosomal dominant #104200, Alport syndrome, autosomal recessive #203780, Hematuria, benign familial #141200
R-numbers: R257
Signed-off version 1.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Alport syndrome, autosomal recessive, 203780, Alport syndrome, autosomal dominant, 104200, Hematuria, benign familial, 141200