Multi-organ autoimmune diabetes
Gene: HNF1AEnsemblGeneIds (GRCh38): ENSG00000135100
EnsemblGeneIds (GRCh37): ENSG00000135100
OMIM: 142410, Gene2Phenotype
HNF1A is in 5 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Removed due to expert review.Created: 22 Jul 2016, 3:02 p.m.
Sian Ellard (University of Exeter Medical School)
Remove gene from panelCreated: 8 Dec 2015, 2:32 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Removed
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- MODY, type III, 600496
- {Diabetes mellitus, noninsulin-dependent, 2}, 125853
- {Diabetes mellitus, insulin-dependent}, 222100
- Hepatic adenoma, somatic, 142330
- Renal cell carcinoma, 144700
- Diabetes mellitus, insulin-dependent, 20, 612520
- Maturity Onset Diabetes of the Young
- Maturity Onset Diabetes of the Young (MODY)
- Monogenic Diabetes
- Maturity-Onset Diabetes Of The Young
- Tags
- OMIM
- 142410
- Clinvar variants
- Variants in HNF1A
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: HNF1A.
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)HNF1A was added to Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)HNF1A was added to Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)HNF1A was added to Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)HNF1A was added to Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN