Activity
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| Childhood interstitial lung disease v0.5 | LRBA | Achchuthan Shanmugasundram commented on gene: LRBA: LRBA 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 | LRBA | Achchuthan Shanmugasundram reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: combined immunodeficiency due to LRBA deficiency, MONDO:0013863, Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.1 | LRBA |
Achchuthan Shanmugasundram gene: LRBA was added gene: LRBA was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700; combined immunodeficiency due to LRBA deficiency, MONDO:0013863 |
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