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| BabyScreen+ newborn screening v1.114 | NLRP3 | Tommy Li Added phenotypes Familial cold inflammatory syndrome 1, MIM#120100 Muckle-Wells syndrome, MIM#191900 CINCA syndrome, MIM#607115 Deafness, autosomal dominant 34, with or without inflammation, MIM#617772 Keratoendothelitis fugax hereditaria, MIM#148200 for gene: NLRP3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2162 | NLRP3 | Zornitza Stark Marked gene: NLRP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2162 | NLRP3 | Zornitza Stark Gene: nlrp3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2162 | NLRP3 | Zornitza Stark Classified gene: NLRP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2162 | NLRP3 | Zornitza Stark Gene: nlrp3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2161 | NLRP3 |
Zornitza Stark Tag treatable tag was added to gene: NLRP3. Tag immunological tag was added to gene: NLRP3. |
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| BabyScreen+ newborn screening v0.2161 | NLRP3 |
Zornitza Stark gene: NLRP3 was added gene: NLRP3 was added to Baby Screen+ newborn screening. Sources: Expert Review Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NLRP3 were set to 25038238 Phenotypes for gene: NLRP3 were set to Familial cold inflammatory syndrome 1, MIM#120100 Muckle-Wells syndrome, MIM#191900 CINCA syndrome, MIM#607115 Deafness, autosomal dominant 34, with or without inflammation, MIM#617772 Keratoendothelitis fugax hereditaria, MIM#148200 Review for gene: NLRP3 was set to AMBER Added comment: Established gene-disease associations. Variants in this gene cause a spectrum of clinical phenotypes, ranging from onset in infancy to adult-onset, with variable severity. Genotype-phenotype correlation is unclear, hence not suitable for inclusion at this time. Treatment: corticosteroids, anakinra, rilonacept and canakinumab. Non-genetic confirmatory testing: no. Sources: Expert Review |
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