Panel | Mode of inheritance | Details |
---|---|---|
5 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 3.1 | 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 2.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Birt-Hogg-Dub syndrome, OMIM:135150 |
Green in Pneumothorax - familialR-numbers: R190 Signed-off version 2.17 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Primary Spontaneous Pneumothorax, 173600, Birt-Hogg-Dube Syndrome, 135150, Birt-Hogg-Dube syndrome, Spontaneous Pneumothorax, Birt-Hogg-Dube Syndrome |