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| Phagocyte Defects v1.2 | CSF2RA | Zornitza Stark Mode of inheritance for gene: CSF2RA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.1 | CSF2RA | Zornitza Stark reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v0.41 | CSF2RA | Zornitza Stark Marked gene: CSF2RA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v0.41 | CSF2RA | Zornitza Stark Gene: csf2ra has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v0.41 | CSF2RA | Bryony Thompson Classified gene: CSF2RA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v0.41 | CSF2RA | Bryony Thompson Gene: csf2ra has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v0.40 | CSF2RA |
Bryony Thompson gene: CSF2RA was added gene: CSF2RA was added to Phagocyte Defects. Sources: Expert list Mode of inheritance for gene: CSF2RA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CSF2RA were set to 18955567; 18955570; 31326401; 28233860; 28212655; 24279752 Phenotypes for gene: CSF2RA were set to Surfactant metabolism dysfunction, pulmonary, 4 MIM#300770 Review for gene: CSF2RA was set to GREEN Added comment: >3 unrelated families reported with impairment of alveolar macrophages, and supporting mouse models Sources: Expert list |
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