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  3. ACE
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Renal and urinary tract disorders

Gene: ACE

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

4 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: Imported from CAKUT panel version 0

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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

Panel version: Imported from CAKUT panel version 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM not in G2P. At least four variants reported
Created: 4 Aug 2016, 9:50 a.m.
Comment on phenotypes: Also associated with [Angiotensin I-converting enzyme, benign serum increase];{Microvascular complications of diabetes 3} 612624;{Myocardial infarction, susceptibility to};{SARS, progression of};{Stroke, hemorrhagic} 614519
Created: 4 Aug 2016, 9:49 a.m.
Created: 4 Aug 2016, 9:49 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.149

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: Imported from CAKUT panel version 0.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal Tubular Dysgenesis
  • Renal Tubular Dysgenesis 267430
  • {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
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Comment when marking as ready:

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added 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 for gene: ACE

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ACE was added gene: ACE was added to Renal and urinary tract disorders. Sources: 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