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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
  3. ACE
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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

Gene: ACE

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

1 review

Chirag Patel (Genetic Health Queensland)

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.
Sources: Expert list
Created: 30 Nov 2022, 10:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal tubular dysgenesis, MIM# 267430

Publications

Created: 30 Nov 2022, 10:44 p.m.

Panel version: 0.117

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal tubular dysgenesis, MIM# 267430
OMIM
106180
Clinvar variants
Variants in ACE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ace has been classified as Green List (High Evidence).

30 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: ace has been classified as Green List (High Evidence).

30 Nov 2022, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: ACE was added gene: ACE was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACE were set to PMID: 16116425, 22095942 Phenotypes for gene: ACE were set to Renal tubular dysgenesis, MIM# 267430 Review for gene: ACE was set to GREEN