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| Disorders of immune dysregulation v0.61 | NCKAP1L | Zornitza Stark Phenotypes for gene: NCKAP1L were changed from Immunodeficiency; Immune dysregulation to Immunodeficiency; Immune dysregulation; Immunodeficiency 72 with autoinflammation, MIM# 618982 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.60 | NCKAP1L | Zornitza Stark edited their review of gene: NCKAP1L: Changed phenotypes: Immunodeficiency, Immune dysregulation, Immunodeficiency 72 with autoinflammation, MIM# 618982 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.60 | NCKAP1L | Zornitza Stark edited their review of gene: NCKAP1L: Changed phenotypes: Immunodeficiency, Immune dysregulation, Immunodeficiency 72 with autoinflammation 618982 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.60 | NCKAP1L | Zornitza Stark Marked gene: NCKAP1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.60 | NCKAP1L | Zornitza Stark Gene: nckap1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.60 | NCKAP1L | Zornitza Stark Classified gene: NCKAP1L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.60 | NCKAP1L | Zornitza Stark Gene: nckap1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.59 | NCKAP1L |
Zornitza Stark gene: NCKAP1L was added gene: NCKAP1L was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: NCKAP1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCKAP1L were set to 32647003 Phenotypes for gene: NCKAP1L were set to Immunodeficiency; Immune dysregulation Review for gene: NCKAP1L was set to GREEN Added comment: 5 patients from 4 families with recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis. Functional studies of the 4 missense reported were performed. Sources: Literature |
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