Diabetes with additional phenotypes suggestive of a monogenic aetiology

Gene: HNF1B

Green List (high evidence)

HNF1B (HNF1 homeobox B)
EnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 21 panels

3 reviews

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber to green due to two expert reviews.
Created: 7 Jun 2016, 9:29 a.m.

Ellen Thomas (Genomics England)

Green List (high evidence)

Routine diagnostic testing for familial diabetes (usually with renal defects but should be included even without known renal disease due to variable expression).
Created: 15 Oct 2015, 7:16 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal cysts and diabetes syndrome, 137920
  • Diabetes mellitus, noninsulin-dependent, 125853
  • {Renal cell carcinoma}, 144700
  • Renal Cysts and Diabetes Syndrome
  • Maturity-Onset Diabetes Of The Young
  • Transient neonatal diabetes
  • RENAL CYSTS AND DIABETES SYNDROME
  • RCAD
  • renal malformation
OMIM
189907
Clinvar variants
Variants in HNF1B
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: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for HNF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

HNF1B was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Eligibility statement prior genetic testing

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

HNF1B was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN

17 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HNF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

HNF1B 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)

HNF1B was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen