Congenital hyperinsulinism
Gene: HNF1AEnsemblGeneIds (GRCh38): ENSG00000135100
EnsemblGeneIds (GRCh37): ENSG00000135100
OMIM: 142410, Gene2Phenotype
HNF1A is in 5 panels
4 reviews
Ivone Leong (Genomics England Curator)
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: Autosomal dominant Hyperinsulinism.Created: 11 Jan 2019, 2:24 p.m.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Mutations which can cause monogenic diabetes can present in infancy with hyperinsulinemic hypoglycaemia.Created: 12 Apr 2016, 8:15 a.m.
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Gene added by Sian Ellard (University of Exeter Medical School).Created: 30 Mar 2016, 7:53 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Expert Review
- Phenotypes
-
- Autosomal dominant Hyperinsulinism
- MODY, type III, 600496
- OMIM
- 142410
- Clinvar variants
- Variants in HNF1A
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: HNF1A were changed from to Autosomal dominant Hyperinsulinism; MODY, type III, 600496
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to HNF1A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen Thomas (Genomics England Curator)Publications for HNF1A were set to 22802087
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)HNF1A was added to Hyperinsulinismpanel. Sources: Expert Review
Created
Ellen McDonagh (Genomics England Curator)HNF1A was created by ellenmcdonagh