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Mendeliome

Gene: LIG4

Green List (high evidence)
LIG4 (DNA ligase 4)
EnsemblGeneIds (GRCh38): ENSG00000174405
EnsemblGeneIds (GRCh37): ENSG00000174405
OMIM: 601837, Gene2Phenotype
LIG4 is in 18 panels

3 reviews

Santosh Varughese (University of Melbourne)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
LIG4 syndrome

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 22 May 2024, 10:17 a.m.
Last Modified: 22 May 2024, 10:17 a.m.
Panel version: 1.1794

Danielle Ariti (University of Melbourne)

Green List (high evidence)

12 unrelated individuals displaying combined immunodeficiency with T- and B- Lymphocytopaenia identified with LIG4 variants; 4 of these individuals showed SCID features; two mouse models.

Homozygous and compound heterozygous (Missense & nonsense) variants resulting in truncated protein

Most common phenotype includes microcephaly, developmental and mental delay, T- and B-lymphocytopaenia and varying degrees of hypogammaglobulinaemia.
Created: 26 Aug 2021, 5 a.m. | Last Modified: 26 Aug 2021, 5 a.m.
Panel Version: 0.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
LIG4 syndrome MIM# 606593; T-/B-lymphocytopaenia; Normal NK, radiation sensitivity; Microcephaly; absent/low B and T cells; low Ig; raised IgM; failure to thrive; bacterial/viral/fungal infections; hypogammaglobulinaemia; neurodevelopmental delay; microcephaly; pancytopaenia

Publications

Created: 26 Aug 2021, 5 a.m.
Last Modified: 26 Aug 2021, 5 a.m.
Panel version: Imported from Severe Combined Immunodeficiency (absent T absent B cells) panel version 0.27

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal recessive disorder characterised by microcephaly, growth and/or developmental delay, pancytopaenia, and various skin abnormalities. Cell lines show pronounced radiosensitivity. At least 7 unrelated families reported, mouse model.
Created: 14 Sep 2020, 12:40 a.m. | Last Modified: 14 Sep 2020, 12:40 a.m.
Panel Version: 0.4406

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
LIG4 syndrome, MIM# 606593

Publications

Created: 14 Sep 2020, 12:40 a.m.
Last Modified: 14 Sep 2020, 12:40 a.m.
Panel version: 0.4406

History Filter Activity

26 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: LIG4.

29 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LIG4 were changed from LIG4 syndrome, MIM# 606593 to LIG4 syndrome, MIM# 606593; DNA ligase IV deficiency, MONDO:0011686

14 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lig4 has been classified as Green List (High Evidence).

14 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593

14 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LIG4 were set to

14 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LIG4 was added gene: LIG4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LIG4 was set to Unknown