Genomics England

collagen type IV alpha 4 chain

Panel	Mode of inheritance	Details
Filter panels3 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780
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 2, autosomal recessive OMIM:203780, Hematuria, familial benign 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 2, autosomal recessive, OMIM:203780, Hematuria,familial benign, OMIM:141200