| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe Combined Immunodeficiency (absent T present B cells) v0.19 | ITPKB | Zornitza Stark Marked gene: ITPKB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.19 | ITPKB | Zornitza Stark Gene: itpkb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.19 | ITPKB | Zornitza Stark Publications for gene: ITPKB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.18 | ITPKB | Zornitza Stark edited their review of gene: ITPKB: Changed publications: 31987846 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.18 | ITPKB |
Zornitza Stark gene: ITPKB was added gene: ITPKB was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature Mode of inheritance for gene: ITPKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITPKB were set to Severe combined immunodeficiency, absent T cells, present B cells and NK cells Review for gene: ITPKB was set to RED Added comment: Single individual with homozygous bi-allelic LoF variant reported. Sources: Literature |
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