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 1.129 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	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 0.375	2 reviews	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Green LIG4 in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.24	2 reviews	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 0.126 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LIG4 syndrome, MIM# 606593
Green LIG4 in Mendeliome Version 1.3512	3 reviews	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 1.357	2 reviews	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 1.138 Component of the following Super Panels: Immunological disorders_SuperPanel	3 reviews	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 1.33 Component of the following Super Panels: Immunological disorders_SuperPanel	4 reviews	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 Level 2: Immunological disorders Version 1.27 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green 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 1.410	1 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 0.110	1 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	1 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 1.83	2 reviews	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 1.465	4 reviews	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 0.38	2 reviews	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 2.14	2 reviews	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 1.140	3 reviews	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	2 reviews	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