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| Severe Combined Immunodeficiency v1.21 | Bryony Thompson Copied gene PRKDC from panel Severe Combined Immunodeficiency (absent T absent B cells) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency v1.21 | PRKDC |
Bryony Thompson gene: PRKDC was added gene: PRKDC 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 Mode of inheritance for gene: PRKDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKDC were set to 19075392; 23722905 Phenotypes for gene: PRKDC were set to Immunodeficiency 26, with or without neurologic abnormalities MIM# 615966; Absent T and B cells; normal NK cells; SCID; recurrent respiratory infections; microcephaly; seizures; developmental delay |
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