Renal ciliopathiesGene: HNF1B
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
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
Comment on list classification: Reasonable to include as a differential diagnosis of ciliopathy
Created: 25 Jan 2017, 1:03 p.m.
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