C1QB

Green C1QB in ClinGen Gene Validity Curations

Version 0.65

Sources

• ClinGen
• Expert Review Green
• Other

Phenotypes

• Immunodeficiency due to an early component of complement deficiency
• ORPHA169147
• OMIM 613652

Green C1QB in COVID-19 research

Level 2: Viral research
Version 1.142

Sources

• IUIS Classification February 2018
• London North GLH
• NHS GMS
• Inherited complement deficiency v0.11
• 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
• Inherited complement deficiency v0.11

Phenotypes

• SLE, infections with encapsulated organisms
• SLE
• lupus-like disease
• Complement component 1 deficiency
• Immunodeficiency due to an early component of complement deficiency, 613652
• C1q deficiency
• susceptibility to invasive bacterial infection
• Complement Deficiencies

Green C1QB in Primary immunodeficiency or monogenic inflammatory bowel disease

Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• 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
• Inherited complement deficiency v0.11

Phenotypes

• Immunodeficiency due to an early component of complement deficiency, 613652
• C1q deficiency
• Complement component 1 deficiency
• SLE
• lupus-like disease
• susceptibility to invasive bacterial infection
• SLE, infections with encapsulated organisms
• Complement Deficiencies

Green C1QB in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• C1q deficiency, 613652