Activity
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| Childhood interstitial lung disease v0.5 | STAT5B | Achchuthan Shanmugasundram commented on gene: STAT5B: STAT5B 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 | STAT5B | Achchuthan Shanmugasundram reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MONDO:0100211, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.1 | STAT5B |
Achchuthan Shanmugasundram gene: STAT5B was added gene: STAT5B was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAT5B were set to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590; growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MONDO:0100211 |
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