| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Brain Calcification v1.112 | IRF8 | Zornitza Stark Marked gene: IRF8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.112 | IRF8 | Zornitza Stark Gene: irf8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.112 | IRF8 | Zornitza Stark Classified gene: IRF8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.112 | IRF8 | Zornitza Stark Gene: irf8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.111 | IRF8 |
Zornitza Stark gene: IRF8 was added gene: IRF8 was added to Brain Calcification. Sources: Literature Mode of inheritance for gene: IRF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IRF8 were set to 29128673; 35338423 Phenotypes for gene: IRF8 were set to Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990 Review for gene: IRF8 was set to AMBER Added comment: PMID 29128673 and PMID 35338423 report 2 individuals from 2 unrelated families with biallelic loss-of-function IRF8 variants (missense and truncating) presenting with autosomal recessive IRF8 deficiency characterized by intracerebral calcifications, dendritic cell deficiency, monocytopenia, pulmonary alveolar proteinosis, and severe early‑onset infections. Sources: Literature |
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