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| Monitoring for G(M)CSF escape mutations v1.2 | CSF3R | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #617014) and the OMIM record was last accessed on 20 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monitoring for G(M)CSF escape mutations v1.2 | CSF3R | Achchuthan Shanmugasundram Phenotypes for gene: CSF3R were changed from to Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014; autosomal recessive severe congenital neutropenia due to CSF3R deficiency, MONDO:0014865 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monitoring for G(M)CSF escape mutations v0.1 | CSF3R | Achchuthan Shanmugasundram reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monitoring for G(M)CSF escape mutations v0.1 | CSF3R |
Achchuthan Shanmugasundram gene: CSF3R was added gene: CSF3R was added to Monitoring for G(M)CSF escape mutations. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CSF3R was set to BIALLELIC, autosomal or pseudoautosomal |
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