Diabetes with additional phenotypes suggestive of a monogenic aetiology

Gene: HNF1A

Green List (high evidence)

HNF1A (HNF1 homeobox A)
EnsemblGeneIds (GRCh38): ENSG00000135100
EnsemblGeneIds (GRCh37): ENSG00000135100
OMIM: 142410, Gene2Phenotype
HNF1A is in 6 panels

2 reviews

Ellen Thomas (Genomics England)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
loss-of-function (truncating variants and curated list of variants)

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Details

Mode of Inheritance
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 III, 600496
  • {Diabetes mellitus, noninsulin-dependent, 2}, 125853
  • {Diabetes mellitus, insulin-dependent}, 222100
  • Hepatic adenoma, somatic, 142330
  • Renal cell carcinoma, 144700
  • Diabetes mellitus, insulin-dependent, 20, 612520
  • 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 3
  • MODY3
OMIM
142410
Clinvar variants
Variants in HNF1A
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Jul 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.

22 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Jul 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Aug 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Aug 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Aug 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Aug 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

HNF1A was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN

17 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

HNF1A was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Emory Genetics Laboratory

17 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

HNF1A was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Illumina TruGenome Clinical Sequencing Services

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HNF1A was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen