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

2 reviews

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