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| Disorders of immune dysregulation v1.23 | NLRP1 | Zornitza Stark Marked gene: NLRP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.23 | NLRP1 | Zornitza Stark Gene: nlrp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.23 | NLRP1 | Zornitza Stark Phenotypes for gene: NLRP1 were changed from Autoinflammation with arthritis and dyskeratosis to Autoinflammation with arthritis and dyskeratosis, MIM# 617388 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.22 | NLRP1 | Zornitza Stark Classified gene: NLRP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.22 | NLRP1 | Zornitza Stark Gene: nlrp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.21 | NLRP1 | Zornitza Stark reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammation with arthritis and dyskeratosis, MIM# 617388; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.21 | NLRP1 |
Peter McNaughton gene: NLRP1 was added gene: NLRP1 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: NLRP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NLRP1 were set to PMID: 27965258 Phenotypes for gene: NLRP1 were set to Autoinflammation with arthritis and dyskeratosis Review for gene: NLRP1 was set to GREEN Added comment: Given overlap autoinflammatory / auto-immune phenotype with arthritis, thyroiditis, cytopaenias, hepatosplenomegaly should be included in immune dysregulation panel in addition to autoinflammatory panel. Sources: Literature |
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