Activity
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| Childhood interstitial lung disease v0.5 | ABCA3 | Achchuthan Shanmugasundram commented on gene: ABCA3: ABCA3 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 | ABCA3 | Achchuthan Shanmugasundram reviewed gene: ABCA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921, interstitial lung disease due to ABCA3 deficiency, MONDO:0012582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.1 | ABCA3 |
Achchuthan Shanmugasundram gene: ABCA3 was added gene: ABCA3 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA3 were set to interstitial lung disease due to ABCA3 deficiency, MONDO:0012582; Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921 |
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