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Fetal anomalies

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.
Sources: Expert Review
Created: 28 Oct 2021, 9:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal tubular dysgenesis, MIM# 267430

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
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

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: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGT was added gene: AGT was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGT were set to 16116425; 34234805; 33163725 Phenotypes for gene: AGT were set to Renal tubular dysgenesis, MIM# 267430 Review for gene: AGT was set to GREEN