IUGR and IGF abnormalities
Gene: LIG4EnsemblGeneIds (GRCh38): ENSG00000174405
EnsemblGeneIds (GRCh37): ENSG00000174405
OMIM: 601837, Gene2Phenotype
LIG4 is in 13 panels
2 reviews
Peter Clayton (University of Manchester)
Philip Murray (University of Manchester)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- LIG4 syndrome, OMIM:606593
- microcephaly, growth retardation, immunodeficiency, developmental delay
- OMIM
- 601837
- Clinvar variants
- Variants in LIG4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Intellectual disability
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- IUGR and IGF abnormalities
- Haematological malignancies cancer susceptibility
- Fetal anomalies
- Severe microcephaly
- Monogenic short stature
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: LIG4 were changed from microcephaly, growth retardation, immunodeficiency, developmental delay to LIG4 syndrome, OMIM:606593; microcephaly, growth retardation, immunodeficiency, developmental delay
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Philip Murray (University of Manchester)LIG4 was added to IUGR and IGF abnormalitiespanel. Sources: Literature
Created
Philip Murray (University of Manchester)LIG4 was created by PhilMurray