ACP5

Green ACP5 in COVID-19 research

Level 2: Viral research
Version 1.142

Sources

• IUIS Classification February 2018
• London North GLH
• NHS GMS
• GRID V2.0
• Victorian Clinical Genetics Services
• North West GLH
• ESID Registry 20171117
• Expert Review Green
• NHS GMS
• North West GLH
• London North GLH
• IUIS Classification February 2018
• Victorian Clinical Genetics Services
• Expert Review Green
• ESID Registry 20171117
• GRID V2.0

Phenotypes

• Spondyloenchondrodysplasia with immune dysregulation Type 1 interferonopathies
• Short stature, SP, ICC, SLE, thrombocytopenia and autoimmune hemolytic anemia, possibly recurrent bacterial and viral infections
• Spondyloenchondrodysplasia with immune dysregulation, 607944
• Type 1 interferonopathies
• Autoinflammatory Disorders

Green ACP5 in White matter disorders and cerebral calcification - narrow panel

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia
• Spondyloenchondrodysplasia with immune dysregulation

Green ACP5 in Primary immunodeficiency or monogenic inflammatory bowel disease

Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Sources

• Expert Review Green
• Other
• NHS GMS
• North West GLH
• London North GLH
• IUIS Classification February 2018
• Victorian Clinical Genetics Services
• ESID Registry 20171117
• GRID V2.0

Phenotypes

• Spondyloenchondrodysplasia with immune dysregulation Type 1 interferonopathies
• Spondyloenchondrodysplasia with immune dysregulation, 607944
• Type 1 interferonopathies
• Short stature, SP, ICC, SLE, thrombocytopenia and autoimmune hemolytic anemia, possibly recurrent bacterial and viral infections
• Autoinflammatory Disorders

Green ACP5 in Intracerebral calcification disorders

Level 3: Parenchymal brain disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.35

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen
• Expert list

Phenotypes

• Spondyloenchondrodysplasia with immune dysregulation
• Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia

Green ACP5 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Spondyloenchondrodysplasia with immune dysregulation 607944

Green ACP5 in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION

No list ACP5 in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Removed
• Emory Genetics Laboratory

Phenotypes

• Disproportionate Short Stature

Tags

• curated_removed

Green ACP5 in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 607944

Amber ACP5 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Amber
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Spondyloenchondrodysplasia with immune dysregulation, 607944

Green ACP5 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Spondyloenchondrodysplasia with immune dysregulation, 607944