Unexplained young onset end-stage renal disease - additional genes
Gene: ACEEnsemblGeneIds (GRCh38): ENSG00000159640
EnsemblGeneIds (GRCh37): ENSG00000159640
OMIM: 106180, Gene2Phenotype
ACE is in 9 panels
6 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal tubular dysgenesis, OMIM:267430
Eleanor Williams (Genomics England Curator)
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Helen Stuart (University of Manchester)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Bill Newman (Manchester Centre for Genomic Medicine)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM not in G2P. At least four variants reportedCreated: 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} 614519Created: 4 Aug 2016, 9:49 a.m.
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Renal tubular dysgenesis, OMIM:267430
- OMIM
- 106180
- Clinvar variants
- Variants in ACE
- Penetrance
- None
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Familial hypercholesterolaemia
- Paediatric disorders - additional genes
- Unexplained kidney failure in young people
- Fetal anomalies
- COVID-19 research
- Cerebral vascular malformations
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- CAKUT
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ACE were changed from {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; Renal Tubular Dysgenesis; Renal Tubular Dysgenesis 267430 to Renal tubular dysgenesis, OMIM:267430
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Added phenotypes {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; Renal Tubular Dysgenesis; Renal Tubular Dysgenesis 267430 for gene: ACE
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: ACE was added gene: ACE was added to Unexplained young onset end-stage renal disease - additional genes. 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; {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; Renal Tubular Dysgenesis 267430