Activity
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3 actions
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| Childhood interstitial lung disease v0.5 | CSF2RB | Achchuthan Shanmugasundram commented on gene: CSF2RB: CSF2RB has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.2 | CSF2RB | Achchuthan Shanmugasundram reviewed gene: CSF2RB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: surfactant metabolism dysfunction, pulmonary, 5, MONDO:0013712, Surfactant metabolism dysfunction, pulmonary, 5, OMIM:614370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.1 | CSF2RB |
Achchuthan Shanmugasundram gene: CSF2RB was added gene: CSF2RB was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSF2RB were set to Surfactant metabolism dysfunction, pulmonary, 5, OMIM:614370; surfactant metabolism dysfunction, pulmonary, 5, MONDO:0013712 |
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