HNF4A

hepatocyte nuclear factor 4 alpha
OMIM: 600281, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

No list HNF4A in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.8

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • MODY, type I, 125850
  • {Diabetes mellitus, noninsulin-dependent}, 125853
  • Maturity Onset Diabetes of the Young
  • Maturity Onset Diabetes of the Young (MODY)
  • Monogenic Diabetes
  • Maturity-Onset Diabetes Of The Young
Tags
  • curated_removed

Green HNF4A in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.63

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • MODY, type I, 125850
  • {Diabetes mellitus, noninsulin-dependent}, 125853
  • Maturity Onset Diabetes of the Young
  • Maturity-onset diabetes of the young (MODY)
  • Maturity-Onset Diabetes Of The Young
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1
  • MODY1
  • #616026

Amber HNF4A in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.24
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert
    Phenotypes
    • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026
    Tags
    • for-review

    Green HNF4A in Congenital hyperinsulinism

    Level 3: Disorders of unusual phenotypes
    Level 2: Endocrine disorders
    Version 2.5
    Latest signed off version: v2.3 (25 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Hyperinsulinism, Dominant
    • Autosomal dominant Hyperinsulinism
    • MODY, type I, 125850

    Green HNF4A in Familial diabetes

    Level 3: Disorders of unusual phenotypes
    Level 2: Endocrine disorders
    Version 1.63

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • MODY, type I, 125850
    • Maturity Onset Diabetes of the Young
    • OMIM 616026

    Green HNF4A in Monogenic diabetes


    Version 2.43
    Latest signed off version: v2.2 (25 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • {Diabetes mellitus, noninsulin-dependent}, OMIM:125853
    • MODY, type I , OMIM:125850
    • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026

    Green HNF4A in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY
    • HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1

    Green HNF4A in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 125850
    • ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY 315353

    Amber HNF4A in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.30
    Latest signed off version: v2.23 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM#616026
    Tags
    • for-review

    Red HNF4A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • MODY, type I, 125850
    • {Diabetes mellitus, noninsulin-dependent}, 125853
    • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026

    Red HNF4A in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert review red
    • Literature
    Phenotypes
    • MODY type I
    • Nephropathy of unknown origin
    • MIM 125850

    Green HNF4A in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • MODY, type I, 125850
    • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026