Activity
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3 actions
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| Childhood interstitial lung disease v0.5 | GATA2 | Achchuthan Shanmugasundram commented on gene: GATA2: GATA2 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 | GATA2 | Achchuthan Shanmugasundram reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Immunodeficiency 21, OMIM:614172, monocytopenia with susceptibility to infections, MONDO:0013607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.1 | GATA2 |
Achchuthan Shanmugasundram gene: GATA2 was added gene: GATA2 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA2 were set to Immunodeficiency 21, OMIM:614172; monocytopenia with susceptibility to infections, MONDO:0013607 |
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