Cerebral vascular malformations

Gene: ACE

Red List (low evidence)

ACE (angiotensin I converting enzyme)
EnsemblGeneIds (GRCh38): ENSG00000159640
EnsemblGeneIds (GRCh37): ENSG00000159640
OMIM: 106180, Gene2Phenotype
ACE is in 8 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Gene is not associated with cerebral vascular malformations.
Created: 25 Nov 2024, 12:25 a.m. | Last Modified: 25 Nov 2024, 12:25 a.m.
Panel Version: 0.39

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. More than 60 families reported.
Created: 28 Oct 2021, 7:48 a.m. | Last Modified: 28 Oct 2021, 7:48 a.m.
Panel Version: 0.9513

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal tubular dysgenesis, MIM# 267430

Publications

Details

History Filter Activity

18 May 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACE was added gene: ACE was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ACE was set to Phenotypes for gene: ACE were set to {Stroke, hemorrhagic}