Ductal plate malformation
Gene: AGTEnsemblGeneIds (GRCh38): ENSG00000135744
EnsemblGeneIds (GRCh37): ENSG00000135744
OMIM: 106150, Gene2Phenotype
AGT is in 8 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Renal tubular dysgenesis (267430)
- OMIM
- 106150
- Clinvar variants
- Variants in AGT
- Penetrance
- None
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Demoted from amber to red due
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to AGT. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: AGT was added gene: AGT was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGT were set to Renal tubular dysgenesis (267430)