Genomics England
GMS Panels
Panels
Genes and Entities

COL4A3

collagen type IV alpha 3 chain
OMIM: 120070
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780, ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200
Green
in Haematuria
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R194
Signed-off version 2.14
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Alport syndrome, autosomal dominant OMIM:104200, Alport syndrome, autosomal recessive OMIM:203780, Hematuria, benign familial OMIM:141200
Green
in Proteinuric renal disease
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R195
Signed-off version 4.17
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