HNF1A

HNF1 homeobox A
OMIM: 142410, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
No list HNF1A in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.11

review 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
  • curated_removed
Green HNF1A in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes mellitus, insulin-dependent, 20, OMIM:612520
  • {Diabetes mellitus, noninsulin-dependent, 2}, OMIM:125853
  • MODY, type III, OMIM:600496
Green HNF1A in Congenital hyperinsulinism

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Autosomal dominant Hyperinsulinism
  • MODY, type III, 600496
Green HNF1A in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes mellitus, insulin-dependent, 20, OMIM:612520
  • {Diabetes mellitus, noninsulin-dependent, 2}, OMIM:125853
  • MODY, type III, OMIM:600496
Green HNF1A in Monogenic diabetes


Version 2.54
Latest signed off version: v2.2 (25 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Diabetes mellitus, insulin-dependent, 20, OMIM:612520
  • {Diabetes mellitus, noninsulin-dependent, 2}, OMIM:125853
  • MODY, type III, OMIM:600496
Tags
  • watchlist_moi
Green HNF1A in Groopman et al 2019 - Genes with diagnostic variants


Version 0.8

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert review green
  • Literature
Phenotypes
  • MODY type III
  • Nephropathy of unknown origin
  • Diabetic nephropathy
  • MIM 600496