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Monogenic diabetes

Gene: HNF1B

Green List (high evidence)
HNF1B (HNF1 homeobox B)
EnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 19 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: Previous phenotypes:
Transient neonatal diabetes;Renal Cysts and Diabetes Syndrome;Diabetes mellitus, noninsulin-dependent, 125853;Maturity-Onset Diabetes Of The Young;RCAD;renal malformation;{Renal cell carcinoma}, 144700;Renal cysts and diabetes syndrome, 137920;RENAL CYSTS AND DIABETES SYNDROME
Created: 16 Mar 2021, 11:52 a.m. | Last Modified: 16 Mar 2021, 11:52 a.m.
Panel Version: 2.17
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: HNF1B; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Diabetes and renal cysts.
Created: 11 Jan 2019, 10:04 a.m.
Created: 11 Jan 2019, 10:04 a.m.

Panel version: 0.8

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Familial diabetes panel version 0

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.
Created: 7 Jun 2016, 9:29 a.m.

Panel version: Imported from Familial diabetes panel version 0.34

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

Created: 15 Oct 2015, 7:16 p.m.

Panel version: Imported from Familial diabetes panel version 0

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HNF1B were changed from Transient neonatal diabetes; Renal Cysts and Diabetes Syndrome; Diabetes mellitus, noninsulin-dependent, 125853; Maturity-Onset Diabetes Of The Young; RCAD; renal malformation; {Renal cell carcinoma}, 144700; Renal cysts and diabetes syndrome, 137920; RENAL CYSTS AND DIABETES SYNDROME to transient neonatal diabetes mellitus (disease), MONDO:0020525; Type 2 diabetes mellitus, OMIM:125853; maturity-onset diabetes of the young (disease), MONDO:0018911

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Initial gene list and info col

11 Jan 2019, Gel status: 4

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HNF1B.

18 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Transient neonatal diabetes; Renal Cysts and Diabetes Syndrome; Diabetes mellitus, noninsulin-dependent, 125853; Maturity-Onset Diabetes Of The Young; RCAD; renal malformation; {Renal cell carcinoma}, 144700; Renal cysts and diabetes syndrome, 137920; RENAL CYSTS AND DIABETES SYNDROME for gene: HNF1B

18 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: HNF1B was added gene: HNF1B was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, 137920