Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
R-numbers: R78 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Charcot Marie Tooth disease, dominant intermediate E, 614455 |
Green in Proteinuric renal diseaseR-numbers: R195 Signed-off version 4.13 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Glomerulosclerosis, focal segmental, 5 #613237, Adult onset nephrotic syndrome (+CMT), FSGS, proteinuria, renal failure |
R-numbers: R257 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Glomerulosclerosis, focal segmental, 5 613237, Charcot-Marie-Tooth disease, dominant intermediate E 614455 |