LIG1

Red LIG1 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.69

Sources

• Expert Review Red
• Literature

Phenotypes

• immunodeficiency, sun sensitivity, growth reatrdation

Green LIG1 in COVID-19 research

Level 2: Viral research
Version 1.142

Sources

• Expert Review Green
• IUIS Classification February 2018
• Literature
• IUIS Classification December 2019
• Other
• Expert Review
• Emory Genetics Laboratory
• IUIS Classification December 2019
• IUIS Classification February 2018
• Literature
• Emory Genetics Laboratory
• Other
• Expert Review

Phenotypes

• DNA ligase I deficiency
• Combined immunodeficiencies with associated or syndromic features
• DNA-ligase 1 ATP-dependent deficiency (LIG1)
• Recurrent respiratory infections, growth retardation, sun sensitivity, lymphoma, radiation sensitivity

Green LIG1 in Primary immunodeficiency or monogenic inflammatory bowel disease

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

Sources

• Expert Review Green
• IUIS Classification December 2019
• IUIS Classification February 2018
• Literature
• Emory Genetics Laboratory
• Other
• Expert Review

Phenotypes

• Combined immunodeficiencies with associated or syndromic features
• Recurrent respiratory infections, growth retardation, sun sensitivity, lymphoma, radiation sensitivity
• DNA-ligase 1 ATP-dependent deficiency (LIG1)
• DNA ligase I deficiency

Red LIG1 in Growth failure in early childhood

Version 3.95
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red

Phenotypes

• immunodeficiency, sun sensitivity, growth reatrdation

Amber LIG1 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• DNA ligase I deficiency