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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: LIG1

Green List (high evidence)
LIG1 (DNA ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000105486
EnsemblGeneIds (GRCh37): ENSG00000105486
OMIM: 126391, Gene2Phenotype
LIG1 is in 4 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Combined immunodeficiency
  • Macrocytosis
  • Growth retardation
  • Hypogammaglobulinaemia
  • Recurrent bacterial and viral infections
  • Sun sensitivity, radiation sensitivity
  • Lymphopaenia
OMIM
126391
Clinvar variants
Variants in LIG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: LIG1 was added gene: LIG1 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIG1 were set to 30395541 Phenotypes for gene: LIG1 were set to Combined immunodeficiency; Macrocytosis; Growth retardation; Hypogammaglobulinaemia; Recurrent bacterial and viral infections; Sun sensitivity, radiation sensitivity; Lymphopaenia