Disorders of immune dysregulation
Gene: LIG4EnsemblGeneIds (GRCh38): ENSG00000174405
EnsemblGeneIds (GRCh37): ENSG00000174405
OMIM: 601837, Gene2Phenotype
LIG4 is in 18 panels
4 reviews
Peter McNaughton (Queensland Children's Hospital)
2 variants (p.R580Q, p.A842D) in unrelated patients associated with a dominantly inherited
familial immune-dysregulation consisting of autoimmune cytopenias, lymphoproliferation, agammaglobulinemia and adaptive immune cell infiltration into nonlymphoid organ. Reconstitution experiments and molecular dynamics simulations categorize both missense mutations as loss-of-function and haploinsufficient.
Sources: LiteratureCreated: 12 Apr 2023, 10:46 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Immune dysregulation
Publications
- PMID: 37004747
Mode of pathogenicity
Other
Danielle Ariti (University of Melbourne)
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- LIG4 syndrome, MIM# 606593
- Immune dysregulation
- OMIM
- 601837
- Clinvar variants
- Variants in LIG4
- Penetrance
- None
- Publications
-
- PMID: 37004747
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Chromosome Breakage Disorders
- Prepair 1000+
- Microcephaly
- Inflammatory bowel disease
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Disorders of immune dysregulation
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Severe Combined Immunodeficiency (absent T absent B cells)
- IBMDx study
- Cataract
- Prepair 500+
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lig4 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LIG4 were changed from Immune dysregulation to LIG4 syndrome, MIM# 606593; Immune dysregulation
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lig4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Peter McNaughton (Queensland Children's Hospital)gene: LIG4 was added gene: LIG4 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: LIG4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LIG4 were set to PMID: 37004747 Phenotypes for gene: LIG4 were set to Immune dysregulation Mode of pathogenicity for gene: LIG4 was set to Other Review for gene: LIG4 was set to GREEN