LIG4

DNA ligase 4
OMIM: 601837, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green LIG4 in Bone Marrow Failure Level 2: Haematological disorders Version 1.118 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686 Tags treatable
Red LIG4 in Cataract Level 2: Ophthalmological disorders Version 0.374	review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Green LIG4 in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.21	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LIG4 syndrome, MIM# 606593 Tags treatable
Green LIG4 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.124 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LIG4 syndrome, MIM# 606593
Green LIG4 in Mendeliome Version 1.2656	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686 Tags treatable
Green LIG4 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.316	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686
Green LIG4 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.121 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes LIG4 syndrome MIM# 606593 T-/B- lymphocytopaenia Normal NK, radiation sensitivity Microcephaly low B/C cells low Ig raised IgM failure to thrive bacterial/viral/fungal infections hypogammaglobulinaemia neurodevelopmental delay microcephaly pancytopaenia Tags treatable
Green LIG4 in Disorders of immune dysregulation Level 2: Immunological disorders Version 1.12 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes LIG4 syndrome, MIM# 606593 Immune dysregulation
Green LIG4 in Severe Combined Immunodeficiency (absent T absent B cells) Level 2: Immunological disorders Version 1.8 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes LIG4 syndrome MIM# 606593 T-/B-lymphocytopaenia Normal NK, radiation sensitivity Microcephaly absent/low B and T cells low Ig raised IgM failure to thrive bacterial/viral/fungal infections hypogammaglobulinaemia neurodevelopmental delay microcephaly pancytopaenia Tags treatable
Green LIG4 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.174	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes LIG4 syndrome, MIM# 606593
Green LIG4 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes LIG4 syndrome, 606593 (3)
Green LIG4 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Severe combined immunodeficiency with sensitivity to ionizing radiation
Green LIG4 in Growth failure Version 1.77	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes LIG4 syndrome, MIM# 606593 microcephaly, growth retardation, immunodeficiency, developmental delay Tags treatable
Green LIG4 in Fetal anomalies Version 1.370	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes LIG4 syndrome, MIM#606593
Green LIG4 in IBMDx study Version 0.35	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green IBMDx Study Victorian Clinical Genetics Services Phenotypes LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686
Green LIG4 in Prepair 1000+ Level 2: Screening Version 2.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686
Green LIG4 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.121	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes LIG4 syndrome, MIM# 606593 Tags treatable immunological
Green LIG4 in Prepair 500+ Level 2: Screening Version 2.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Mackenzie's Mission Phenotypes LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686