Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: LIG4

Green List (high evidence)

LIG4 (DNA ligase 4)
EnsemblGeneIds (GRCh38): ENSG00000174405
EnsemblGeneIds (GRCh37): ENSG00000174405
OMIM: 601837, Gene2Phenotype
LIG4 is in 15 panels

2 reviews

Neil shah (GOSH)

Green List (high evidence)

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} 254500
Created: 6 Sep 2016, 8:19 a.m.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • SCID
  • LIG4 syndrome 606593
OMIM
601837
Clinvar variants
Variants in LIG4
Penetrance
Complete
Publications
  • 27537055 - pathogenic variant in this gene reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease.
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

12 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for LIG4 were set to 27537055 - pathogenic variant in this gene reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease.

6 Sep 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for LIG4 were set to SCID; LIG4 syndrome 606593

6 Sep 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

LIG4 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

6 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene LIG4 were set to SCID; LIG4 syndrome 606593

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LIG4 was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LIG4 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list