Activity
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| Childhood interstitial lung disease v0.5 | FARSA | Achchuthan Shanmugasundram commented on gene: FARSA: FARSA 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 | FARSA | Achchuthan Shanmugasundram reviewed gene: FARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013, Rajab interstitial lung disease with brain calcifications 2, MONDO:0100220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.1 | FARSA |
Achchuthan Shanmugasundram gene: FARSA was added gene: FARSA was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FARSA were set to ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013; Rajab interstitial lung disease with brain calcifications 2, MONDO:0100220 |
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