Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: HNF1B
HNF1B (HNF1 homeobox B)
EnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Large deletions identified with array CGH, that include HNF1B is the only evidence reported with an association with amenorhoea.Created: 2 Oct 2020, 6:01 a.m. | Last Modified: 2 Oct 2020, 6:01 a.m.
Panel Version: 0.35
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mayer-rokitansky-kuster-hauser syndrome
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Renal cysts and diabetes syndrome 137920 AD
- OMIM
- 189907
- Clinvar variants
- Variants in HNF1B
- Penetrance
- None
- Panels with this gene
-
- Ciliopathies
- Renal Tubulointerstitial Disease
- Cholestasis
- Monogenic Diabetes
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
- Maturity-onset Diabetes of the Young
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
- Fetal anomalies
- Additional findings_Paediatric
- Renal Macrocystic Disease
- Mendeliome
- Renal Tubulopathies and related disorders
History Filter Activity
11 Dec 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hnf1b has been classified as Red List (Low Evidence).
2 Oct 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hnf1b has been classified as Red List (Low Evidence).
24 Jun 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HNF1B was added gene: HNF1B was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome 137920 AD