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Multiple Tumours

Gene: HNF1A

Amber List (moderate evidence)
HNF1A (HNF1 homeobox A)
EnsemblGeneIds (GRCh38): ENSG00000135100
EnsemblGeneIds (GRCh37): ENSG00000135100
OMIM: 142410, Gene2Phenotype
HNF1A is in 5 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: On the UKGTN Hereditary Cancer and Fanconi Anaemia 94 gene panel for Renal cell carcinoma.
Created: 18 Apr 2017, 2:43 p.m.
Information from TruSight panel: Pathogenic Mutations are Inactivating.
Created: 5 Feb 2016, 11:46 a.m.
Created: 5 Feb 2016, 11:46 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Maturity-Onset Diabetes of The Young, Type 3 (MODY3)
  • Hepatic adenoma
OMIM
142410
Clinvar variants
Variants in HNF1A
Penetrance
Complete
Publications
  • Rebouissou, S., et al., 2005 Germline hepatocyte nuclear factor 1-alpha and 1-beta mutations in renal cell carcinomas. Hum. Molec. Genet. 14: 603-614
Panels with this gene

History Filter Activity

18 Apr 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for HNF1A were set to Rebouissou, S., et al., 2005 Germline hepatocyte nuclear factor 1-alpha and 1-beta mutations in renal cell carcinomas. Hum. Molec. Genet. 14: 603-614

18 Apr 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

HNF1A was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)

5 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HNF1A was created by ellenmcdonagh