Familial diabetes
Gene: HNF1A
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: HNF1A; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Diabetes.Created: 11 Jan 2019, 10:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
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}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520; Maturity Onset Diabetes of the Young to Diabetes mellitus, insulin-dependent, 20, OMIM:612520; {Diabetes mellitus, noninsulin-dependent, 2}, OMIM:125853; MODY, type III, OMIM:600496
This gene has been classified as Green List (High Evidence).
Mode of inheritance for HNF1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
HNF1A was added to Familial diabetespanel. Sources: UKGTN
HNF1A was added to Familial diabetespanel. Sources: Illumina TruGenome Clinical Sequencing Services
HNF1A was added to Familial diabetespanel. Sources: Emory Genetics Laboratory
HNF1A was added to Familial diabetespanel. Sources: Radboud University Medical Center, Nijmegen