Severe Combined Immunodeficiency (absent T absent B cells)
Gene: LIG4EnsemblGeneIds (GRCh38): ENSG00000174405
EnsemblGeneIds (GRCh37): ENSG00000174405
OMIM: 601837, Gene2Phenotype
LIG4 is in 18 panels
2 reviews
Santosh Varughese (University of Melbourne)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LIG4 syndrome; MULTIPLE MYELOMA, RESISTANCE TO
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
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- 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
- Tags
- OMIM
- 601837
- Clinvar variants
- Variants in LIG4
- Penetrance
- None
- Publications
- 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
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: LIG4.
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 to 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: LIG4 were set to
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
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 Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: LIG4 was set to Unknown