Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
R-numbers: R78 Signed-off version 4.11 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Charcot Marie Tooth disease, dominant intermediate E, 614455 |
Green in Proteinuric renal diseaseComponent of the following Super Panels:
R-numbers: R195 Signed-off version 4.17 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Glomerulosclerosis, focal segmental, 5 #613237, Adult onset nephrotic syndrome (+CMT), FSGS, proteinuria, renal failure |