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| Autoinflammatory Disorders v1.67 | RIPK1 | Bryony Thompson Marked gene: RIPK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v1.67 | RIPK1 | Bryony Thompson Gene: ripk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v1.67 | RIPK1 | Bryony Thompson Classified gene: RIPK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v1.67 | RIPK1 | Bryony Thompson Gene: ripk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v1.66 | RIPK1 |
Bryony Thompson gene: RIPK1 was added gene: RIPK1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list Mode of inheritance for gene: RIPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RIPK1 were set to 31827280; 31827281 Phenotypes for gene: RIPK1 were set to autoinflammation with episodic fever and lymphadenopathy MONDO:0030018 Mode of pathogenicity for gene: RIPK1 was set to Other Review for gene: RIPK1 was set to GREEN gene: RIPK1 was marked as current diagnostic Added comment: Variants involving residue D324 impair caspase-8-mediated cleavage of RIPK1 and lead to RIPK1 activation. At least 5 families reported with D324N/H/Y and a supporting mouse model. Sources: Expert list |
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