SCID
Gene: LIG4EnsemblGeneIds (GRCh38): ENSG00000174405
EnsemblGeneIds (GRCh37): ENSG00000174405
OMIM: 601837, Gene2Phenotype
LIG4 is in 13 panels
6 reviews
Christopher Duncan (Newcastle University)
Kimberly Gilmour (Great Ormond Street Hopsital)
Sophie Hambleton (Newcastle University)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SCID with microcephaly and radiosensitivity
Tracy Briggs (Manchester Genomic Medicine Centre)
Peter Arkwright (Royal Manchester Foundation Trust)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Agreement from 5 reviewers.Created: 20 May 2016, 2:06 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450
- Severe Combined Immunodeficiency with Sensitivity to IonizingRadiation
- LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500
- Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450
- T-B- SCID
- T-B+ SCID
- SCID with microcephaly and radiosensitivity
- OMIM
- 601837
- Clinvar variants
- Variants in LIG4
- Penetrance
- Complete
- Panels with this gene
-
- IUGR and IGF abnormalities
- Intellectual disability
- Severe microcephaly
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Monogenic short stature
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Fetal anomalies
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for LIG4 were set to LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450; Severe Combined Immunodeficiency with Sensitivity to IonizingRadiation; LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500; Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450; T-B- SCID; T-B+ SCID; SCID with microcephaly and radiosensitivity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LIG4 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)LIG4 was added to SCIDpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LIG4 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)LIG4 was added to SCIDpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LIG4 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)LIG4 was added to SCIDpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)LIG4 was added to SCIDpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN