COL4A4

collagen type IV alpha 4 chain
OMIM: 120131
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780
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,familial benign, 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 recessive, (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
R-numbers: R257
Signed-off version 1.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hematuria,familial benign, Alport syndrome, autosomal recessive, 203780