PanelApp
  1. Genes and Genomic Entities
  2. HNF1B

HNF1B

HNF1 homeobox B
OMIM: 189907, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

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


Level 2: Renal and urinary tract disorders
Version 0.127

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  1 review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green HNF1B in Cholestasis


    Level 2: Gastroenterological disorders
    Version 1.5

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  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 1.94

    		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 1.3512

    		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 0.91

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  0 reviews Unknown
    Sources
    • Expert Review Green
    • KidGen_Cystic v38.1.0

    Green HNF1B in Renal Tubulointerstitial Disease


    Level 2: Renal and urinary tract disorders
    Version 1.7

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  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 1.130

    		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 Maturity-onset Diabetes of the Young


    Level 2: Endocrine disorders
    Version 1.24

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Renal cysts and diabetes syndrome, 137920
    Tags
    • cnv

    Green HNF1B in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.152

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  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 0.388

    		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 0.278

    		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 0.43

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

    Green HNF1B in Fetal anomalies


    Version 1.465

    		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 1.140

    		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 1.22

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  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 0.20

    		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