Microcephaly
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
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
This is a phenotypically heterogeneous condition with clinical presentation varying from lymphoreticular malignancies in developmentally normal individuals to significant microcephaly, primordial dwarfism, radiation hypersensitivity, severe combined immunodeficiency and early mortality.
More than 15 unrelated individuals reported.Created: 29 Mar 2021, 1 a.m. | Last Modified: 29 Mar 2021, 1 a.m.
Panel Version: 0.565
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LIG4 syndrome, MIM# 606593
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- LIG4 syndrome, MIM# 606593
- DNA ligase IV deficiency, MONDO:0011686
- 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
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
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
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 Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LIG4 was set to Unknown