This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
Gene: LIG4
LIG4 (DNA ligase 4)
EnsemblGeneIds (GRCh38): ENSG00000174405
EnsemblGeneIds (GRCh37): ENSG00000174405
OMIM: 601837, Gene2Phenotype
LIG4 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000174405
EnsemblGeneIds (GRCh37): ENSG00000174405
OMIM: 601837, Gene2Phenotype
LIG4 is in 13 panels
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Non-homologous end-joining
- Activity: Ligase
- OMIM
- 601837
- Clinvar variants
- Variants in LIG4
- Penetrance
- Complete
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Intellectual disability
- IUGR and IGF abnormalities
- Severe microcephaly
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Monogenic short stature
- Gastrointestinal epithelial barrier disorders
History Filter Activity
7 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Publication PMID: 28837162 ent
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)LIG4 was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)LIG4 was created by ellenmcdonagh