Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes renal oncocytoma |
Green in Cystic kidney diseaseComponent of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Birt-Hogg-Dube syndrome, OMIM:135150, renal cysts, cutaneous fibrofolliculoma, pneumothorax, pulmonary cysts, renal cell carcinoma, renal oncocytoma |
Green in Inherited renal cancerR-numbers: R224 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Renal carcinoma, Parotid oncocytomas, Neural tissue tumors, Lipomas, Angiolipomas |
R-numbers: R230 Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Birt-Hogg-Dub syndrome, OMIM:135150 |
Green in Pneumothorax - familialR-numbers: R190 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Pneumothorax, primary spontaneous, OMIM:173600, Birt-Hogg-Dube Syndrome, OMIM:135150 |
R-numbers: R257 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Birt-Hogg-Dube syndrome, OMIM:135150, renal cell carcinoma, renal cysts, pneumothorax, renal oncocytoma, pulmonary cysts, cutaneous fibrofolliculoma |