| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v2.0 | ITPKB | Gene migrated from ENSG00000143772 to ENSG00000143772 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14588 | ITPKB | Zornitza Stark Marked gene: ITPKB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14588 | ITPKB | Zornitza Stark Gene: itpkb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14588 | ITPKB | Zornitza Stark Phenotypes for gene: ITPKB were changed from Severe combined immunodeficiency, absent T cells, present B cells and NK cells to Severe combined immunodeficiency MONDO:0015974, absent T cells, present B cells and NK cells | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2669 | ITPKB |
Zornitza Stark gene: ITPKB was added gene: ITPKB was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ITPKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITPKB were set to 31987846 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||