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  3. HNF1A
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Monogenic Diabetes

Gene: HNF1A

Green List (high evidence)
HNF1A (HNF1 homeobox A)
EnsemblGeneIds (GRCh38): ENSG00000135100
EnsemblGeneIds (GRCh37): ENSG00000135100
OMIM: 142410, Gene2Phenotype
HNF1A is in 7 panels

1 review

Hali Van Niel (University of Melbourne)

Green List (high evidence)

Well established gene disease association with diabetes mellitus and MODY type 3
Created: 30 Apr 2024, 5:40 a.m. | Last Modified: 30 Apr 2024, 5:40 a.m.
Panel Version: 0.52

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
maturity-onset diabetes of the young type 3 MONDO:0010894; diabetes mellitus MONDO:0005015

Publications

Created: 30 Apr 2024, 5:40 a.m.
Last Modified: 30 Apr 2024, 5:40 a.m.
Panel version: 0.52

Details

Mode of Inheritance
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
OMIM
142410
Clinvar variants
Variants in HNF1A
Penetrance
None
Panels with this gene

History Filter Activity

17 Jan 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HNF1A was added gene: HNF1A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1A were set to 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