Activity
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| Childhood interstitial lung disease v0.5 | SLC7A7 | Achchuthan Shanmugasundram commented on gene: SLC7A7: SLC7A7 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 | SLC7A7 | Achchuthan Shanmugasundram reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: lysinuric protein intolerance, MONDO:0009109, Lysinuric protein intolerance, OMIM:222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.1 | SLC7A7 |
Achchuthan Shanmugasundram gene: SLC7A7 was added gene: SLC7A7 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, OMIM:222700; lysinuric protein intolerance, MONDO:0009109 |
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