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Severe Combined Immunodeficiency (absent T absent B cells) v0.18 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Severe Combined Immunodeficiency (absent T absent B cells) v0.18 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency (absent T absent B cells) v0.18 NHEJ1 Zornitza Stark Phenotypes for gene: NHEJ1 were changed from to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; MONDO:0012650
Severe Combined Immunodeficiency (absent T absent B cells) v0.17 NHEJ1 Zornitza Stark Publications for gene: NHEJ1 were set to
Severe Combined Immunodeficiency (absent T absent B cells) v0.16 NHEJ1 Zornitza Stark Mode of inheritance for gene: NHEJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency (absent T absent B cells) v0.15 NHEJ1 Zornitza Stark reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16439204, 16439205; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291, MONDO:0012650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency (absent T absent B cells) v0.0 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NHEJ1 was set to Unknown