| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Disorders of immune dysregulation v0.102 | RHBDF2 | Zornitza Stark Marked gene: RHBDF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.102 | RHBDF2 | Zornitza Stark Gene: rhbdf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.102 | RHBDF2 | Zornitza Stark Classified gene: RHBDF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.102 | RHBDF2 | Zornitza Stark Gene: rhbdf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.101 | RHBDF2 |
Zornitza Stark gene: RHBDF2 was added gene: RHBDF2 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: RHBDF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RHBDF2 were set to 34937930 Phenotypes for gene: RHBDF2 were set to Pneumonia; Colitis; Immunodeficiency Review for gene: RHBDF2 was set to GREEN Added comment: 4 individuals from 2 families with LoF variants in this gene and recurrent infections. Functional data including mouse model. Note mono allelic (missense) variants in this gene are associated with tylosis. Sources: Literature |
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