Neonatal cholestasis
Gene: HNF1BComment on mode of inheritance: There are no reports of biallelic variants in this gene in patients with cholestasis.Created: 25 Jul 2018, 11 a.m.
Comment on list classification: Although this gene is not associated with cholestasis in OMIM or Gene2phenotype, 3 unrelated cases of cholestasis have been reported with SNVs in HNF1B (note HNF1B is within the common 17q12 microdeletion syndrome region, and some cases cited in 25741167 are associated with deletions rather than SNVs).Created: 25 Jul 2018, 10:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis; renal cysts; diabetes; ciliopathy
PMID: 25741167 provides a review of the evidence of the role of HNF1B in neonatal and adult onset jaundice and cholestasis, in addition to the more widely known renal cysts and diabetes phenotype.
Has been seen in at least 7 unrelated patients with cholestasis arising at a wide range of ages. One child reported with non-hepatic biliary atresia as well as others with a paucity of intrahepatic bile ducts and some patients (later onset cholestasis) with what they designate a ciliopathy of cholangiocytes.
Mouse model of HNF1B demonstrates HNF1B important in development of biliary system, and knockouts have severe neonatal cholestasis. PMID: 11934849
Not currently listed as a phenotype of HNF1B in OMIM.Created: 11 Jun 2018, 9:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
This is a diabetes gene; we have not included it in our cholestasis panel becuase it doesnt have an OMIM entry associated to cholestasis or liver abnomral function.Created: 4 Jun 2018, 11:33 a.m.
Phenotypes
diabetes mellitus; renal cysts and diabetes
Comment on list classification: Promoted to green, as there are more than 3 families reported with heterozygous variants in this gene for Renal cysts and diabetes syndrome.Created: 22 May 2018, 2:10 p.m.
This panel has been subjected to extensive internal and external review.
Phenotypes for gene: HNF1B were set to Cholestasis; neonatal and adult onset jaundice and cholestasis
Gene: hnf1b has been classified as Green List (High Evidence).
Mode of inheritance for gene: HNF1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: hnf1b has been classified as Green List (High Evidence).
Phenotypes for gene: HNF1B were set to Cholestasis
Publications for gene: HNF1B were set to 25741167; 9398836; 10484768; 10720943; 12161522; 11562418; 11317673; 11085914; 15001636; 17307554; 22706971
Publications for gene: HNF1B were set to 25741167; 9398836; 10484768; 10720943; 12161522; 11562418; 11317673; 11085914; 15001636; 17307554
Victorian Clinical Genetics Services was added to HNF1B. Panel: Cholestasis
Mode of inheritance for HNF1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
Publications for HNF1B were set to 25741167; 9398836; 10484768; 10720943; 12161522; 11562418; 11317673; 11085914
Publications for HNF1B were set to 25741167; 9398836; 10484768; 10720943; 12161522; 11562418; 11317673
Publications for HNF1B were set to 25741167; 9398836; 10484768; 10720943; 12161522
Publications for HNF1B were set to 25741167; 9398836; 10484768; 10720943
Publications for HNF1B were set to 25741167; 9398836; 10484768
Publications for HNF1B were set to 25741167; 9398836
Phenotypes for HNF1B were set to Renal cysts and diabetes syndrome 137920
Publications for HNF1B were set to 25741167
HNF1B was added to Cholestasis panel. Sources: Emory Genetics Laboratory
HNF1B was created by Ellen McDonagh