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BabyScreen+ newborn screening v1.113 LIG4 Zornitza Stark Publications for gene: LIG4 were set to 16088910; 9823897; 10911993; 15333585; 9809069, 12023982; 11040211; 15175260; 19451691; 17554302; 11779494
BabyScreen+ newborn screening v1.112 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
BabyScreen+ newborn screening v1.111 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: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302, 11779494; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1710 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Tag immunological tag was added to gene: LIG4.
BabyScreen+ newborn screening v0.229 LIG4 Zornitza Stark Marked gene: LIG4 as ready
BabyScreen+ newborn screening v0.229 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.229 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from Severe combined immunodeficiency with sensitivity to ionizing radiation to LIG4 syndrome, MIM# 606593
BabyScreen+ newborn screening v0.228 LIG4 Zornitza Stark reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.199 LIG4 David Amor reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome, immunodeficiency, developmental delay, growth delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIG4 were set to Severe combined immunodeficiency with sensitivity to ionizing radiation