LIG1

DNA ligase 1
OMIM: 126391, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green LIG1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 96, MIM# 619774 Lymphopaenia Hypogammaglobulinaemia Recurrent bacterial and viral infections Growth retardation Sun sensitivity, radiation sensitivity Macrocytosis
Green LIG1 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Combined immunodeficiency Lymphopaenia Hypogammaglobulinaemia Recurrent bacterial and viral infections Growth retardation Sun sensitivity, radiation sensitivity Macrocytosis
Green LIG1 in Severe Combined Immunodeficiency (absent T absent B cells) Level 2: Immunological disorders Version 1.7 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 96, MIM# 619774
Green LIG1 in Growth failure Version 1.76	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Combined immunodeficiency Lymphopaenia Hypogammaglobulinaemia Recurrent bacterial and viral infections Growth retardation Sun sensitivity, radiation sensitivity Macrocytosis
Green LIG1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 96, MIM# 619774 Tags treatable immunological