Cerebral vascular malformations
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
Alice Gardham (Genomics England)
Comment when marking as ready: Increased relative risk of stroke with homozygous polymorphism. No association with cerebral vascular malformationCreated: 12 Dec 2016, 2:16 p.m.
Increased relative risk of stroke with homozygous polymorphism. No association with cerebral vascular malformationCreated: 12 Dec 2016, 2:15 p.m.
Phenotypes
Stroke, hemorrhagic 614519
Publications
Details
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- Other
- Phenotypes
-
- {Stroke, hemorrhagic}
- 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
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ACE.
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ACE.
19 Dec 2016, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
12 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
9 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ACE was added to Cerebrovascular disorderspanel. Sources: Other
9 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ACE was created by ellenmcdonagh