1. Panels
  2. Hyperinsulinism
  3. HNF1A
STRs in panel
Prev Next
Regions in panel
Prev Next

Hyperinsulinism

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gene previously as TCF1. Well established association.
Created: 4 May 2022, 5:22 a.m. | Last Modified: 4 May 2022, 5:22 a.m.
Panel Version: 0.13690

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diabetes mellitus, insulin-dependent, 20, MIM# 612520; MODY, type III , MIM#600496

Publications

Created: 4 May 2022, 5:22 a.m.
Last Modified: 4 May 2022, 5:22 a.m.
Panel version: Imported from Mendeliome panel version 0.13690

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Diabetes mellitus, insulin-dependent, 20, MIM# 612520
  • MODY, type III , MIM#600496
OMIM
142410
Clinvar variants
Variants in HNF1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hnf1a has been classified as Green List (High Evidence).

12 Sep 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: HNF1A were changed from to Diabetes mellitus, insulin-dependent, 20, MIM# 612520; MODY, type III , MIM#600496

12 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: HNF1A were set to

12 Sep 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: HNF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HNF1A was added gene: HNF1A was added to Hyperinsulinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HNF1A was set to Unknown