This Panel is marked as Internal
Newborns additional phenotypes panel 1
Gene: HNF1A
HNF1A (HNF1 homeobox A)
EnsemblGeneIds (GRCh38): ENSG00000135100
EnsemblGeneIds (GRCh37): ENSG00000135100
OMIM: 142410, Gene2Phenotype
HNF1A is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000135100
EnsemblGeneIds (GRCh37): ENSG00000135100
OMIM: 142410, Gene2Phenotype
HNF1A is in 5 panels
1 review
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is loss-of-function (LOF).Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
https://search.clinicalgenome.org/kb/genes/HGNC:11621Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- HNF1A associated MODY
- OMIM
- 142410
- Clinvar variants
- Variants in HNF1A
- Penetrance
- None
- Panels with this gene
History Filter Activity
14 Sep 2023, Gel status: 1
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Red was added to HNF1A. Added phenotypes HNF1A associated MODY for gene: HNF1A Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
5 Jul 2023, Gel status: 2
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Amber was added to HNF1A. Added phenotypes HNF1A associated MODY for gene: HNF1A Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
31 May 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Mafalda Gomes (Genomics England Curator)gene: HNF1A was added gene: HNF1A was added to Newborns additional phenotypes panel 1. Sources: Expert Review Red Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HNF1A were set to HNF1A associated MODY