LIG4

PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
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
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION, LIG4 SYNDROME
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: miscellaneous, Ligase IV syndrome, Lymphoma, ALL
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450, LIG4 SYNDROME
R-numbers: R15
Signed-off version 2.1
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
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MPD, microcephalic primordial dwarfism, LIG4 syndrome, 606593, microcephaly