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  3. HNF4A
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Monogenic Diabetes

Gene: HNF4A

Green List (high evidence)
HNF4A (hepatocyte nuclear factor 4 alpha)
EnsemblGeneIds (GRCh38): ENSG00000101076
EnsemblGeneIds (GRCh37): ENSG00000101076
OMIM: 600281, Gene2Phenotype
HNF4A is in 9 panels

1 review

Hali Van Niel (University of Melbourne)

Green List (high evidence)

Well know gene disease association for MODY type 1
Created: 30 Apr 2024, 5:53 a.m. | Last Modified: 30 Apr 2024, 5:53 a.m.
Panel Version: 0.52

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
maturity-onset diabetes of the young type 1 MONDO:0007452

Publications

Created: 30 Apr 2024, 5:53 a.m.
Last Modified: 30 Apr 2024, 5:53 a.m.
Panel version: 0.52

Details

Mode of Inheritance
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
OMIM
600281
Clinvar variants
Variants in HNF4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hnf4a has been classified as Green List (High Evidence).

4 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HNF4A were changed from 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 to 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

4 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HNF4A were set to 28242437

17 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HNF4A was added gene: HNF4A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNF4A were set to 28242437 Phenotypes for gene: HNF4A were set to 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