HNF1B

PanelMode of inheritanceDetails
10 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal cysts and diabetes syndrome, 137920
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Renal cysts and diabetes syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RENAL CYSTS AND DIABETES SYNDROME 137920
R-numbers: R143
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Transient neonatal diabetes mellitus (disease), MONDO:0020525, permanent neonatal diabetes mellitus, MONDO:0100164, Type 2 diabetes mellitus, OMIM:125853, transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RENAL CYSTS AND DIABETES SYNDROME
R-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
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
R-numbers: R198
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal cysts and diabetes syndrome, 137920, Diabetes mellitus, noninsulin-dependent, 125853
R-numbers: R202
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal cysts and diabetes syndrome MIM 137920, NIDDM MIM 125853
R-numbers: R257
Signed-off version 2.1
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