ACE

Red ACE in COVID-19 research

Level 2: Viral research
Version 1.141

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 1.30

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 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.15
Latest signed off version: v3.0 (22 Mar 2023)

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 1.67

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

Red ACE in Autism

Version 0.36

Sources

• Expert Review Red
• SFARI

Green ACE in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.118

Component of the following Super Panels:

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 1.175

Component of the following Super Panels:

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 Unexplained young onset end-stage renal disease

Version 3.40
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert Review Green

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
• Renal Tubular Dysgenesis 267430

Green ACE in Fetal anomalies

Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE Additional Gene List
• Expert Review Green

Phenotypes

• Renal tubular dysgenesis 267430

Green ACE in Paediatric disorders - additional genes

Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Other

Phenotypes

• CAKUT
• Renal Tubular Dysgenesis

Green ACE in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Renal tubular dysgenesis, 267430