Monogenic diabetes

Gene: HNF1A

Green List (high evidence)

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

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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: HNF1A; 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.
Created: 11 Jan 2019, 10:04 a.m.

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

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)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hepatic adenoma, somatic, 142330
  • Maturity-Onset Diabetes Of The Young
  • {Diabetes mellitus, insulin-dependent}, 222100
  • Renal cell carcinoma, 144700
  • 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, insulin-dependent, 20, 612520
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
  • MODY3
  • Maturity-onset diabetes of the young (MODY)
  • {Diabetes mellitus, noninsulin-dependent, 2}, 125853
  • MODY, type III, 600496
  • Maturity Onset Diabetes of the Young
OMIM
142410
Clinvar variants
Variants in HNF1A
Penetrance
None
Panels with this gene

History Filter Activity

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 HNF1A.

18 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Hepatic adenoma, somatic, 142330; Maturity-Onset Diabetes Of The Young; {Diabetes mellitus, insulin-dependent}, 222100; Renal cell carcinoma, 144700; Diabetes mellitus, insulin-dependent, 20, 612520; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3; Maturity-onset diabetes of the young (MODY); {Diabetes mellitus, noninsulin-dependent, 2}, 125853; MODY, type III, 600496; Maturity Onset Diabetes of the Young for gene: HNF1A

18 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: HNF1A was added gene: HNF1A was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1A were set to 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; Maturity Onset Diabetes of the Young