Unexplained kidney failure in young people
Gene: ACE
ACE (angiotensin I converting enzyme)
EnsemblGeneIds (GRCh38): ENSG00000159640
EnsemblGeneIds (GRCh37): ENSG00000159640
OMIM: 106180, Gene2Phenotype
ACE is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000159640
EnsemblGeneIds (GRCh37): ENSG00000159640
OMIM: 106180, Gene2Phenotype
ACE is in 9 panels
1 review
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Renal Tubular Dysgenesis 267430
- OMIM
- 106180
- Clinvar variants
- Variants in ACE
- Penetrance
- Complete
- 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
17 Aug 2016, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
4 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 Aug 2016, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ACE were set to Renal Tubular Dysgenesis 267430
4 Aug 2016, Gel status: 4
Upload gene information
Sarah Leigh (Genomics England Curator)ACE was added to Unexplained kidney failure in young peoplepanel. Sources: UKGTN
27 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
26 Jun 2016, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ACE were set to Renal Tubular Dysgenesis 267430
18 May 2016, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)ACE was added to Unexplained kidney failure in young peoplepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Green
18 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)ACE was created by sleigh