| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Disorders of immune dysregulation v0.203 | FAAP24 | Bryony Thompson Classified gene: FAAP24 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.203 | FAAP24 | Bryony Thompson Added comment: Comment on list classification: Disputed gene-disease association by the Primary Immune Regulatory Disorders GCEP (https://search.clinicalgenome.org/CCID:008245). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.203 | FAAP24 | Bryony Thompson Gene: faap24 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.183 | FAAP24 | Zornitza Stark Phenotypes for gene: FAAP24 were changed from EBV infection-driven lymphoproliferative disease to Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.182 | FAAP24 | Zornitza Stark edited their review of gene: FAAP24: Changed phenotypes: Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.25 | FAAP24 | Zornitza Stark Marked gene: FAAP24 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.25 | FAAP24 | Zornitza Stark Gene: faap24 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.25 | FAAP24 |
Zornitza Stark gene: FAAP24 was added gene: FAAP24 was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: FAAP24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAAP24 were set to 27473539 Phenotypes for gene: FAAP24 were set to EBV infection-driven lymphoproliferative disease Review for gene: FAAP24 was set to RED Added comment: Single sib pair with homozygous missense variant, some functional data. Sources: Expert list |
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