CAKUT
Gene: ACE

ACE (angiotensin I converting enzyme)
EnsemblGeneIds (GRCh38): ENSG00000159640
EnsemblGeneIds (GRCh37): ENSG00000159640
OMIM: 106180, Gene2Phenotype
ACE is in 9 panels

3 reviews

Helen Stuart (University of Manchester)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Promoted from amber to green as two reviewers in agreement.
Created: 29 Mar 2016, 10:19 a.m.

Created: 29 Mar 2016, 10:19 a.m.

Panel version: 0.14

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Renal Tubular Dysgenesis
{Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular

OMIM

106180

Clinvar variants

Variants in ACE

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

14 May 2020, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ACE were set to

29 Mar 2016, Gel status: 4