Cholestasis

Gene: HNF1B

Amber List (moderate evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Comment on list classification: New gene added by Zornitiza Stark. Based on the available evidence there is enough evidence to support a gene-disease association. Therefore, this gene is rated Amber and will be promoted to Green in the next review.

This gene is also Green on the Neonatal Cholestasis panel (v1.4)
Created: 28 Oct 2020, 2:58 p.m. | Last Modified: 28 Oct 2020, 2:58 p.m.
Panel Version: 1.42

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple case reports of cholestasis in individuals with HNF1B-related disease.
Sources: Expert list
Created: 9 Aug 2020, 3:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Renal cysts and diabetes syndrome, MIM# 137920

Publications

History Filter Activity

28 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: hnf1b has been classified as Amber List (Moderate Evidence).

28 Oct 2020, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: HNF1B.

28 Oct 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HNF1B were changed from Renal cysts and diabetes syndrome, MIM# 137920 to Renal cysts and diabetes syndrome, 137920

9 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: HNF1B was added gene: HNF1B was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNF1B were set to 28324003; 29727438; 30791938; 25741167 Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, MIM# 137920 Review for gene: HNF1B was set to GREEN