Activity
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5 actions
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| Combined Immunodeficiency v0.22 | GINS1 | Zornitza Stark Marked gene: GINS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.22 | GINS1 | Zornitza Stark Gene: gins1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.22 | GINS1 | Zornitza Stark Classified gene: GINS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.22 | GINS1 | Zornitza Stark Gene: gins1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.21 | GINS1 |
Zornitza Stark gene: GINS1 was added gene: GINS1 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: GINS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GINS1 were set to 28414293 Phenotypes for gene: GINS1 were set to Immunodeficiency 55, MIM#617827 Review for gene: GINS1 was set to GREEN Added comment: IUGR, natural killer (NK) cell deficiency, and chronic neutropenia;mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. At least 5 patients from four unrelated families reported. Sources: Expert list |
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