Activity
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| Childhood interstitial lung disease v0.5 | SFTPC | Achchuthan Shanmugasundram commented on gene: SFTPC: SFTPC 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 | SFTPC | Achchuthan Shanmugasundram reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: surfactant metabolism dysfunction, pulmonary, 2, MONDO:0024465, SFTPC-related interstitial lung disease, MONDO:0018603, Surfactant metabolism dysfunction, pulmonary, 2, OMIM:610913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.1 | SFTPC |
Achchuthan Shanmugasundram gene: SFTPC was added gene: SFTPC was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SFTPC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SFTPC were set to Surfactant metabolism dysfunction, pulmonary, 2, OMIM:610913; SFTPC-related interstitial lung disease, MONDO:0018603; surfactant metabolism dysfunction, pulmonary, 2, MONDO:0024465 |
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