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Prepair 1000+

Gene: ACE

Green List (high evidence)

ACE (angiotensin I converting enzyme)
EnsemblGeneIds (GRCh38): ENSG00000159640
EnsemblGeneIds (GRCh37): ENSG00000159640
OMIM: 106180, Gene2Phenotype
ACE is in 8 panels

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Gene-disease association is definitive, more than 60 families reported
Onset: perinatal
Severity: generally lethal

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterised 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: 15 Nov 2024, 1:36 a.m. | Last Modified: 15 Nov 2024, 1:36 a.m.
Panel Version: 1.547

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
  • Mackenzie's Mission
Phenotypes
  • Renal tubular dysgenesis, 267430 (3)
OMIM
106180
Clinvar variants
Variants in ACE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

20 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ACE were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACE was added gene: ACE was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACE were set to Renal tubular dysgenesis, 267430 (3)