HNF1B

HNF1 homeobox B
OMIM: 189907, ClinGen, DECIPHER

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green HNF1B in Congenital anomalies of the kidney and urinary tract (CAKUT)


Level 2: Renal and urinary tract disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal cysts and diabetes syndrome, MIM# 137920

Green HNF1B in Cholestasis


Level 2: Gastroenterological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal cysts and diabetes syndrome, MIM# 137920

Green HNF1B in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal cysts and diabetes syndrome, MIM# 137920
Tags
  • SV/CNV

Green HNF1B in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal cysts and diabetes syndrome, MIM# 137920
Tags
  • SV/CNV

Green HNF1B in Renal Macrocystic Disease


Level 2: Renal and urinary tract disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Phenotypes
  • Renal cysts and diabetes syndrome, MIM# 137920
Tags
  • SV/CNV

Green HNF1B in Renal Tubulointerstitial Disease


Level 2: Renal and urinary tract disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulointerstitial v38.1.0
Phenotypes
  • Diabetes mellitus, noninsulin-dependent 125853 AD
  • Renal cysts and diabetes syndrome 137920 AD
  • {Renal cell carcinoma} 144700

Green HNF1B in Additional findings_Adult


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Renal cysts and diabetes syndrome, MIM# 137920
Tags
  • SV/CNV

Green HNF1B in Monogenic Diabetes


Level 2: Endocrine disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • renal cysts and diabetes syndrome MONDO:0007669
Tags
  • SV/CNV

Red HNF1B in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Renal cysts and diabetes syndrome 137920 AD

Red HNF1B in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Renal cysts and diabetes syndrome

Green HNF1B in Incidentalome_PREGEN_DRAFT


Version 1.0

0 reviews Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Green HNF1B in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Renal cysts and diabetes syndrome, MIM# 137920
Tags
  • SV/CNV

Red HNF1B in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Renal cysts and diabetes syndrome

Green HNF1B in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Renal cysts and diabetes syndrome, MIM#137920

Green HNF1B in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Transient neonatal diabetes
  • RCAD
  • RENAL CYSTS AND DIABETES SYNDROME
  • Maturity-Onset Diabetes Of The Young
  • renal malformation
  • {Renal cell carcinoma}, 144700
  • Renal cysts and diabetes syndrome, 137920
  • Diabetes mellitus, noninsulin-dependent, 125853
  • Renal Cysts and Diabetes Syndrome