Genomics England
GMS Panels
Panels
Genes and Entities

HNF1B

HNF1 homeobox B
OMIM: 189907
PanelMode of inheritanceDetails
9 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal cysts and diabetes syndrome, 137920
Green
in Cystic kidney disease
Component of the following Super Panels:
  • - Cystic renal disease
  • - Unexplained young onset end-stage renal disease
Signed-off version 8.0
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 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RENAL CYSTS AND DIABETES SYNDROME 137920
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RENAL CYSTS AND DIABETES SYNDROME
Green
in Monogenic diabetes
R-numbers: R141
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
transient neonatal diabetes mellitus (disease), MONDO:0020525, Type 2 diabetes mellitus, OMIM:125853, maturity-onset diabetes of the young (disease), MONDO:0018911
Green
in Neonatal diabetes
R-numbers: R143
Signed-off version 5.0
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
Green
in Renal ciliopathies
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
  • - Unexplained young onset end-stage renal disease
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
Green
in Renal tubulopathies
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R198
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal cysts and diabetes syndrome, 137920, Diabetes mellitus, noninsulin-dependent, 125853
Green
in Tubulointerstitial kidney disease
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R202
Signed-off version 3.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal cysts and diabetes syndrome MIM 137920, NIDDM MIM 125853