Activity
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| Childhood interstitial lung disease v0.5 | SFTPA1 | Achchuthan Shanmugasundram commented on gene: SFTPA1: SFTPA1 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 | SFTPA1 | Achchuthan Shanmugasundram reviewed gene: SFTPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Interstitial lung disease 1, OMIM:619611, interstitial lung disease 1, MONDO:0030608; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.1 | SFTPA1 |
Achchuthan Shanmugasundram gene: SFTPA1 was added gene: SFTPA1 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SFTPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: SFTPA1 were set to Interstitial lung disease 1, OMIM:619611; interstitial lung disease 1, MONDO:0030608 |
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