HNF4A

hepatocyte nuclear factor 4 alpha
OMIM: 600281, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green HNF4A 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
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026
  • MODY, type I, OMIM # 125850

Green HNF4A in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026
  • MODY, type I, OMIM # 125850

Green HNF4A 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 I, 125850
  • OMIM 616026

Green HNF4A 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
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026
    • Maturity-Onset Diabetes Of The Young, Type 1
    • MODY1, 125850
    • {Diabetes mellitus, noninsulin-dependent}, 125853

    Green HNF4A in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    Phenotypes
    • Hypoglycaemia, hyperinsulinaemic

    Green HNF4A in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young MIM#616026

    Amber HNF4A in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • BabySeq Category C gene
    • BeginNGS
    Phenotypes
    • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM# 616026
    • Hypoglycaemia, hyperinsulinaemic, MIM#125850
    • MODY, type I, OMIM # 125850
    Tags
    • for review
    • endocrine

    Green HNF4A in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.14

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • KidGen_Tubulopathies v38.1.0
    Phenotypes
    • MODY, type I, OMIM # 125850
    • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026

    Green HNF4A in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026
    • MODY1, 125850
    • {Diabetes mellitus, noninsulin-dependent}, 125853
    • Maturity-Onset Diabetes Of The Young, Type 1