Genomics England
GMS Panels
Panels
Genes and Entities

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 3.1
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)
Green
in Proteinuric renal disease
R-numbers: R195
Signed-off version 4.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Alport syndrome 2, autosomal recessive, OMIM:203780, Hematuria,familial benign, OMIM:141200
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Alport syndrome 2, autosomal recessive, OMIM:203780, Hematuria,familial benign, OMIM:141200