Renal tubulopathies
Gene: HNF4AThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:45 a.m. | Last Modified: 8 Mar 2022, 11:45 a.m.
Panel Version: 2.32
Comment on list classification: Changed rating to Amber to reflect NHS signed-off rating, will be examined at next panel review.Created: 16 Oct 2020, 8:25 a.m. | Last Modified: 16 Oct 2020, 8:25 a.m.
Panel Version: 2.17
Comment on list classification: HNF4A sufficient individuals who are unrelated and from different populations in the literature to classify this as Green. Variable phenotype reported although currently only one variant p.R63W. PMID 28458902 reported a patients with the variant and reviewed other published case.Created: 19 Mar 2020, 4:48 p.m. | Last Modified: 19 Mar 2020, 4:48 p.m.
Panel Version: 2.4
Multiple individuals reported.
Sources: Expert listCreated: 9 Jan 2020, 5:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM#616026
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: HNF4A were changed from Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM#616026 to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
Tag for-review was removed from gene: HNF4A.
Source Expert Review Green was added to HNF4A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: hnf4a has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: HNF4A.
Gene: hnf4a has been classified as Green List (High Evidence).
gene: HNF4A was added gene: HNF4A was added to Renal tubulopathies. Sources: Expert list Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNF4A were set to 22802087; 24285859; 30005691; 28458902; 31875549 Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM#616026 Review for gene: HNF4A was set to GREEN gene: HNF4A was marked as current diagnostic