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Maturity-onset Diabetes of the Young

Gene: HNF1B

Green List (high evidence)
HNF1B (HNF1 homeobox B)
EnsemblGeneIds (GRCh38): ENSG00000275410
EnsemblGeneIds (GRCh37): ENSG00000108753
OMIM: 189907, Gene2Phenotype
HNF1B is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, CNVs common.
Created: 4 Jul 2021, 5:17 a.m. | Last Modified: 18 Jul 2021, 8:54 a.m.
Panel Version: 0.8379

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Renal cysts and diabetes syndrome, MIM# 137920

Created: 4 Jul 2021, 5:17 a.m.
Last Modified: 18 Jul 2021, 8:54 a.m.
Panel version: Imported from Mendeliome panel version Imported from Ciliopathies panel version 0.389

History Filter Activity

22 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hnf1b has been classified as Green List (High Evidence).

22 Sep 2022, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag cnv tag was added to gene: HNF1B.

30 Dec 2019, 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 Maturity-onset Diabetes of the Young_RMH. 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