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Bone Marrow Failure v1.91 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, DNA ligase IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.21 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Bone Marrow Failure v0.197 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from LIG4 syndrome, MIM# 606593 to LIG4 syndrome, MIM# 606593; DNA ligase IV deficiency, MONDO:0011686
Bone Marrow Failure v0.107 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Bone Marrow Failure v0.107 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.107 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593
Bone Marrow Failure v0.106 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Bone Marrow Failure v0.105 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.104 LIG4 Zornitza Stark reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIG4 was set to Unknown