LIG4

DNA ligase 4
OMIM: 601837, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green LIG4 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes LIG4 syndrome, OMIM:606593
Green LIG4 in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Curated sources Phenotypes LIG4 syndrome, OMIM:606593 Class: miscellaneous Ligase IV syndrome Lymphoma ALL
Amber LIG4 in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.76	review	Not set	Sources Expert Review Amber Expert list
Green LIG4 in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes LIG4 syndrome, OMIM:606593 microcephaly, growth retardation, immunodeficiency, developmental delay
Green LIG4 in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 SCID v1.6 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Combined B and T cell defect v1.12 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 SCID v1.6 Combined B and T cell defect v1.12 Phenotypes Combined immunodeficiency LIG4 syndrome DNA ligase IV deficiency Nl NK, radiation sensitive, microcephaly Immunodeficiencies affecting cellular and humoral immunity T-B+ SCID Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450 Severe combined immunodeficiency (SCID) T-B- SCID LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500 Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation
Green LIG4 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 SCID v1.6 Combined B and T cell defect v1.12 Phenotypes LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500 Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450 Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation T-B- SCID T-B+ SCID LIG4 syndrome Combined immunodeficiency Severe combined immunodeficiency (SCID) DNA ligase IV deficiency Nl NK, radiation sensitive, microcephaly Immunodeficiencies affecting cellular and humoral immunity
Green LIG4 in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.37 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Curated sources Phenotypes LIG4 syndrome, OMIM:606593 Ligase IV syndrome Lymphoma ALL
Green LIG4 in Severe microcephaly Level 2: Neurology Version 8.31 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Other Expert list Phenotypes LIG4 syndrome, OMIM:606593 Microcephalic primordial dwarfism
Red LIG4 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London South GLH Phenotypes LIG4 syndrome, OMIM:606593
Green LIG4 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes LIG4 syndrome, OMIM:606593
Green LIG4 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION 602450 LIG4 SYNDROME 606593
Green LIG4 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes LIG4 syndrome, OMIM:606593
Red LIG4 in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes LIG4 syndrome, OMIM:606593 microcephaly, growth retardation, immunodeficiency, developmental delay