| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Phagocyte Defects v1.18 | SRP68 | Zornitza Stark Marked gene: SRP68 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.18 | SRP68 | Zornitza Stark Gene: srp68 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.18 | SRP68 | Zornitza Stark Classified gene: SRP68 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.18 | SRP68 | Zornitza Stark Gene: srp68 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.17 | SRP68 |
Zornitza Stark gene: SRP68 was added gene: SRP68 was added to Phagocyte Defects. Sources: Expert list Mode of inheritance for gene: SRP68 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRP68 were set to 32273475 Phenotypes for gene: SRP68 were set to Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534 Review for gene: SRP68 was set to AMBER Added comment: Single individual reported with bi-allelic LoF variants and presenting with infantile-onset severe neutropenia and recurrent infections. Multiple lines of functional evidence provided. Sources: Expert list |
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