Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Green in Cystic kidney diseaseComponent of the following Super Panels:
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Renal cysts and diabetes syndrome |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes RENAL CYSTS AND DIABETES SYNDROME 137920 |
Green in Diabetes - neonatal onsetR-numbers: R143 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Transient neonatal diabetes, transient neonatal diabetes mellitus (TNDM), permanent neonatal diabetes mellitus, Diabetes mellitus, noninsulin-dependent, 125853, Transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes RENAL CYSTS AND DIABETES SYNDROME |
Green in Monogenic diabetesR-numbers: R141 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Transient neonatal diabetes, Renal Cysts and Diabetes Syndrome, Diabetes mellitus, noninsulin-dependent, 125853, Maturity-Onset Diabetes Of The Young, RCAD, renal malformation, {Renal cell carcinoma}, 144700, Renal cysts and diabetes syndrome, 137920, RENAL CYSTS AND DIABETES SYNDROME |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel |
Green in Renal tubulopathiesR-numbers: R198 Signed-off version 2.23 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Renal cysts and diabetes syndrome, 137920, Diabetes mellitus, noninsulin-dependent, 125853 |
Green in Tubulointerstitial kidney diseaseR-numbers: R202 Signed-off version 1.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Renal cysts and diabetes syndrome MIM 137920, NIDDM MIM 125853 |
R-numbers: R257 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Diabetes mellitus, noninsulin-dependent 125853, {Renal cell carcinoma} 144700, Diabetes mellitus, noninsulin-dependent, Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome 137920 |