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  2. Severe Combined Immunodeficiency (absent T absent B cells)
  3. LIG1
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Severe Combined Immunodeficiency (absent T absent B cells)

Gene: LIG1

Green List (high evidence)
LIG1 (DNA ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000105486
EnsemblGeneIds (GRCh37): ENSG00000105486
OMIM: 126391, Gene2Phenotype
LIG1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional families reported with combined immunodeficiency, inclusion here due to severe end of the spectrum.
Created: 6 Dec 2022, 7:07 a.m. | Last Modified: 6 Dec 2022, 7:07 a.m.
Panel Version: 1.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 96, MIM# 619774

Created: 6 Dec 2022, 7:07 a.m.
Last Modified: 6 Dec 2022, 7:07 a.m.
Panel version: 1.1

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

3x individuals from 2x kindreds presenting with SCID.
Created: 9 Nov 2022, 10:56 p.m. | Last Modified: 5 Dec 2022, 5:17 a.m.
Panel Version: 1.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe combined immunodeficiency

Publications

Created: 9 Nov 2022, 10:56 p.m.
Last Modified: 5 Dec 2022, 5:17 a.m.
Panel version: 1.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 96, MIM# 619774
OMIM
126391
Clinvar variants
Variants in LIG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lig1 has been classified as Green List (High Evidence).

6 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LIG1 were changed from Severe combined immunodeficiency to Immunodeficiency 96, MIM# 619774

6 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lig1 has been classified as Green List (High Evidence).

9 Nov 2022, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: LIG1 was added gene: LIG1 was added to Severe Combined Immunodeficiency (absent T absent B cells). Sources: Literature Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIG1 were set to PMID: 33025376; PMID: 36341401 Phenotypes for gene: LIG1 were set to Severe combined immunodeficiency Review for gene: LIG1 was set to GREEN