Activity
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6 actions
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| Childhood interstitial lung disease v0.5 | MARS | Achchuthan Shanmugasundram changed review comment from: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1; to: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.5 | MARS | Achchuthan Shanmugasundram commented on gene: MARS: MARS 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 | MARS | Achchuthan Shanmugasundram commented on gene: MARS: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.2 | MARS | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: MARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.2 | MARS | Achchuthan Shanmugasundram reviewed gene: MARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Interstitial lung and liver disease, OMIM:615486, severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, MONDO:0014206; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.1 | MARS |
Achchuthan Shanmugasundram gene: MARS was added gene: MARS was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MARS were set to severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, MONDO:0014206; Interstitial lung and liver disease, OMIM:615486 |
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