Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: HNF1A
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
loss-of-function (truncating variants and curated list of variants)
Phenotypes for gene: HNF1A were changed from 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); Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3 to Diabetes mellitus, insulin-dependent, 20, OMIM:612520; {Diabetes mellitus, noninsulin-dependent, 2}, OMIM:125853; MODY, type III, OMIM:600496
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.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
HNF1A was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN
HNF1A was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Emory Genetics Laboratory
Model of inheritance for gene HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
HNF1A was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Illumina TruGenome Clinical Sequencing Services
HNF1A was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen