Genomics England

LIG4

DNA ligase 4

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.6	BIALLELIC, autosomal or pseudoautosomal	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 in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes LIG4 syndrome, OMIM:606593
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Class: miscellaneous, Ligase IV syndrome, Lymphoma, ALL
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes LIG4 syndrome, OMIM:606593
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	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 in Severe microcephaly R-numbers: R88 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes LIG4 syndrome, OMIM:606593, Microcephalic primordial dwarfism