Gastrointestinal epithelial barrier disorders
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
3 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: From internal clinical review and literature search, it appears that there is one patient with gastrointestinal features and a LIG4 variant (patient presented with other immunologically related phenotypes).
Internal clinical team review suggests that gastrointestinal phenotypes are not clearly linked with variants in this gene and that patients primarily present with other features beforehand. Taking this into account with the expert review, I will make this amber.Created: 25 Jul 2018, 3:06 p.m.
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. At least five reports of p.Arg814* and four other variants identified.
Created: 6 Sep 2016, 8:26 a.m.
Comment on phenotypes: Also associated with {Multiple myeloma, resistance to} 254500Created: 6 Sep 2016, 8:19 a.m.
Publications
Details
- Sources
-
- Expert Review Amber
- Expert list
- OMIM
- 601837
- Clinvar variants
- Variants in LIG4
- Penetrance
- None
- 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
25 Jul 2018, Gel status: 2
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
25 Jul 2018, Gel status: 2
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: lig4 has been classified as Amber List (Moderate Evidence).
17 Apr 2018, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)LIG4 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
17 Apr 2018, Gel status: 1
Created
Olivia Niblock (Genomics England Curator)LIG4 was created by Olivia Niblock