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  3. AGT
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Renal Tubular Dysgenesis

Gene: AGT

Green List (high evidence)
AGT (angiotensinogen)
EnsemblGeneIds (GRCh38): ENSG00000135744
EnsemblGeneIds (GRCh37): ENSG00000135744
OMIM: 106150, Gene2Phenotype
AGT is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, more than 10 unrelated families reported.

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects
Created: 28 Oct 2021, 9:41 p.m. | Last Modified: 28 Oct 2021, 9:41 p.m.
Panel Version: 0.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal tubular dysgenesis, MIM# 267430

Publications

Created: 28 Oct 2021, 9:41 p.m.
Last Modified: 28 Oct 2021, 9:41 p.m.
Panel version: 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal tubular dysgenesis, MIM# 267430
OMIM
106150
Clinvar variants
Variants in AGT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AGT were changed from to Renal tubular dysgenesis, MIM# 267430

28 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AGT were set to

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGT was added gene: AGT was added to Renal tubular dysgenesis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal