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| Severe Combined Immunodeficiency v1.18 | Bryony Thompson Copied gene LIG4 from panel Severe Combined Immunodeficiency (absent T absent B cells) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency v1.18 | LIG4 |
Bryony Thompson gene: LIG4 was added gene: LIG4 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services treatable tags were added to gene: LIG4. Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIG4 were set to 27717373; 10911993 Phenotypes for gene: LIG4 were set to LIG4 syndrome MIM# 606593; T-/B-lymphocytopaenia; Normal NK, radiation sensitivity; Microcephaly; absent/low B and T cells; low Ig; raised IgM; failure to thrive; bacterial/viral/fungal infections; hypogammaglobulinaemia; neurodevelopmental delay; microcephaly; pancytopaenia |
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