Autoinflammatory Disorders
Gene: FBXW11
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autoinflammatory disorder MONDO:0019751, FBXW11-related
Single patient with autoinflammatory disorder characterised by recurrent periodic fever and severe headaches. Functional studies showing increased NF-kB phosphorylation, increased p65 phosphorylation and increased IL-1B production.
Sources: LiteratureCreated: 19 Oct 2022, 11:20 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autoinflammation
Publications
Gene: fbxw11 has been classified as Red List (Low Evidence).
Phenotypes for gene: FBXW11 were changed from Autoinflammation to Autoinflammatory disorder MONDO:0019751, FBXW11-related
Gene: fbxw11 has been classified as Red List (Low Evidence).
gene: FBXW11 was added gene: FBXW11 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXW11 were set to PMID: 36250618 Phenotypes for gene: FBXW11 were set to Autoinflammation Review for gene: FBXW11 was set to RED