Cholestasis
Gene: HNF1BThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
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
Multiple case reports of cholestasis in individuals with HNF1B-related disease.
Sources: Expert listCreated: 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
Tag for-review was removed from gene: HNF1B.
Source Expert Review Green was added to HNF1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: hnf1b has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: HNF1B.
Phenotypes for gene: HNF1B were changed from Renal cysts and diabetes syndrome, MIM# 137920 to Renal cysts and diabetes syndrome, 137920
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