HNF1A

HNF1 homeobox A
OMIM: 142410, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green HNF1A in Hyperinsulinism


Level 2: Endocrine disorders
Version 1.16

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Diabetes mellitus, insulin-dependent, 20, MIM# 612520
  • MODY, type III , MIM#600496

Green HNF1A in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diabetes mellitus, insulin-dependent, 20, MIM# 612520
  • MODY, type III , MIM#600496

Green HNF1A in Additional findings_Adult


Level 2: Screening
Version 0.166

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • MODY, type III , MIM#600496

Green HNF1A in Maturity-onset Diabetes of the Young


Level 2: Endocrine disorders
Version 1.21

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Maturity Onset Diabetes of the Young
  • MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520

Red HNF1A in CGC_86


Version 0.2

review Other
Sources
  • CGC_86
Phenotypes
  • Hepatic adenomas, familial

Red HNF1A in NCGC


Version 0.2

review Other
Sources
  • NCGC
Phenotypes
  • Hepatic adenomas, familial

Red HNF1A in TCGA_PANCAN_2018


Version 0.2

review Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Hepatic adenomas, familial

Green HNF1A in Monogenic Diabetes


Level 2: Endocrine disorders
Version 0.134

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
    • Maturity-Onset Diabetes Of The Young
    • MODY, type III, 600496
    • Maturity-onset diabetes of the young (MODY)
    • MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520
    • {Diabetes mellitus, noninsulin-dependent, 2}, 125853
    • Diabetes mellitus, insulin-dependent, 20, 612520
    • {Diabetes mellitus, insulin-dependent}, 222100
    • Maturity Onset Diabetes of the Young
    • MODY3

    Amber HNF1A in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • BeginNGS
    Phenotypes
    • MODY, type III , MIM#600496
    Tags
    • treatable
    • endocrine

    Green HNF1A in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • MODY, type III , MIM#600496