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Genomic newborn screening: BabyScreen+ v0.1710 NHEJ1 Zornitza Stark Tag immunological tag was added to gene: NHEJ1.
Genomic newborn screening: BabyScreen+ v0.436 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Genomic newborn screening: BabyScreen+ v0.436 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.436 NHEJ1 Zornitza Stark Tag treatable tag was added to gene: NHEJ1.
Genomic newborn screening: BabyScreen+ v0.436 NHEJ1 Zornitza Stark reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NHEJ1 David Amor reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291