HNF1A

HNF1 homeobox A
OMIM: 142410, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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 2.57 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