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Renal tubulopathies

Gene: HNF4A

Green List (high evidence)
HNF4A (hepatocyte nuclear factor 4 alpha)
EnsemblGeneIds (GRCh38): ENSG00000101076
EnsemblGeneIds (GRCh37): ENSG00000101076
OMIM: 600281, Gene2Phenotype
HNF4A is in 10 panels

3 reviews

Eleanor Williams (Genomics England Curator)

The 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
Created: 8 Mar 2022, 11:45 a.m.
Last Modified: 8 Mar 2022, 11:45 a.m.
Panel version: 2.32

Catherine Snow (Genomics England)

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
Created: 19 Mar 2020, 4:48 p.m.
Last Modified: 19 Mar 2020, 4:48 p.m.
Panel version: 2.4

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple individuals reported.
Sources: Expert list
Created: 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

Created: 9 Jan 2020, 5:04 a.m.

Panel version: 2.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
OMIM
600281
Clinvar variants
Variants in HNF4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

8 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from gene: HNF4A.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to HNF4A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

16 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: hnf4a has been classified as Amber List (Moderate Evidence).

24 Jun 2020, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: HNF4A.

19 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: hnf4a has been classified as Green List (High Evidence).

9 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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