ACE

angiotensin I converting enzyme
OMIM: 106180, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red ACE in COVID-19 research


Level 2: Viral research
Version 1.146

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Not associated with susceptibility to SARS-coronavirus infection and disease outcomes
Red ACE in Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.31

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
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
Red ACE in Cerebral vascular malformations


Level 2: Neurology
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

review Not set
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Other
Phenotypes
  • {Stroke, hemorrhagic}
No list ACE in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.68

review Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
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
Tags
  • curated_removed
Green ACE in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.124

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal Tubular Dysgenesis 267430
Green ACE in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.181

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • 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
Green ACE in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • Renal tubular dysgenesis 267430
Green ACE in Paediatric disorders - additional genes


Level 2: Developmental disorders
Version 7.31
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • CAKUT
    • Renal Tubular Dysgenesis
    Green ACE in Unexplained young onset end-stage renal disease - additional genes


    Level 2: Renal
    Version 1.4
    Latest signed off version: v1.1 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Renal tubular dysgenesis, OMIM:267430