Activity
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| Childhood interstitial lung disease v0.5 | STAT1 | Achchuthan Shanmugasundram commented on gene: STAT1: STAT1 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 | STAT1 | Achchuthan Shanmugasundram reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, OMIM:614162, autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, MONDO:0013599; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.1 | STAT1 |
Achchuthan Shanmugasundram gene: STAT1 was added gene: STAT1 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: STAT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: STAT1 were set to Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, OMIM:614162; autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, MONDO:0013599 |
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