Renal ciliopathies

Gene: HNF1B

Green List (high evidence)

HNF1B (HNF1 homeobox B)
EnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 22 panels

3 reviews

Eleanor Williams (Genomics England Curator)

After consulting the Genomics England rare disease clinical team, it was decided to keep this gene green on the renal ciliopathies panel as there is some phenotypic overlap.
Created: 9 Jul 2020, 4:33 p.m. | Last Modified: 9 Jul 2020, 4:33 p.m.
Panel Version: 1.23

Zornitza Stark (Australian Genomics)

Red List (low evidence)

The inclusion of this gene on this panel is inconsistent with the inclusion/exclusion of other genes that can mimic a renal ciliopathy. Large renal cysts are more typical, would suggest the 'Cystic Kidney' panel is more appropriate for this gene.
Created: 3 Jan 2020, 4 a.m. | Last Modified: 3 Jan 2020, 4 a.m.
Panel Version: 1.0

Alice Gardham (Genomics England)

Comment on list classification: Reasonable to include as a differential diagnosis of ciliopathy
Created: 25 Jan 2017, 1:03 p.m.

History Filter Activity

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: HNF1B was added gene: HNF1B was added to Renal ciliopathies. Sources: UKGTN,Expert list,Expert Review Green Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HNF1B were set to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel