Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780 |
Green in HaematuriaR-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 diseaseR-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 |
R-numbers: R257 Signed-off version 3.11 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Alport syndrome 2, autosomal recessive, OMIM:203780, Hematuria,familial benign, OMIM:141200 |