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| Monogenic Diabetes v0.79 | STAT1 | Zornitza Stark Marked gene: STAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.79 | STAT1 | Zornitza Stark Gene: stat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.79 | STAT1 | Zornitza Stark Phenotypes for gene: STAT1 were changed from to autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.78 | STAT1 | Zornitza Stark Publications for gene: STAT1 were set to 23534974 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.77 | STAT1 | Zornitza Stark Classified gene: STAT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.77 | STAT1 | Zornitza Stark Gene: stat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.74 | STAT1 | Hali Van Niel Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.74 | STAT1 |
Hali Van Niel edited their review of gene: STAT1: Added comment: STAT1 associated with 3 types of immonodeficiencies Immonodeficiency 31A (AD, LoF), Immonodeficiency 31B (AR, LoF) and Immonodeficiency 31C (autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome), AD, GoF variants in STAT1 23534974: 5 patients w GOF mutation in STAT1, 3 developed type 1 diabetes mellitus 33027576: 1 patient with type 1 diabetes Well established gene disease association, type 1 diabetes mellitus may present with disease; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Monogenic Diabetes v0.74 | STAT1 | Hali Van Niel reviewed gene: STAT1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 23534974, 33027576; Phenotypes: autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.74 | STAT1 | Hali Van Niel Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.74 | STAT1 | Hali Van Niel reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23534974, 33027576; Phenotypes: autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.0 | STAT1 |
Zornitza Stark gene: STAT1 was added gene: STAT1 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Red Mode of inheritance for gene: STAT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STAT1 were set to 23534974 Mode of pathogenicity for gene: STAT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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