LIG1

DNA ligase 1
OMIM: 126391, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red LIG1 in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes immunodeficiency, sun sensitivity, growth reatrdation
Green LIG1 in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	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 Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	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 Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes immunodeficiency, sun sensitivity, growth reatrdation