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  2. Autoinflammatory Disorders
  3. FBXW11
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Autoinflammatory Disorders

Gene: FBXW11

Red List (low evidence)
FBXW11 (F-box and WD repeat domain containing 11)
EnsemblGeneIds (GRCh38): ENSG00000072803
EnsemblGeneIds (GRCh37): ENSG00000072803
OMIM: 605651, Gene2Phenotype
FBXW11 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autoinflammatory disorder MONDO:0019751, FBXW11-related

Created: 20 Oct 2022, 2:30 a.m.
Last Modified: 20 Oct 2022, 2:30 a.m.
Panel version: 1.0

Peter McNaughton (Queensland Children's Hospital)

Red List (low evidence)

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: Literature
Created: 19 Oct 2022, 11:20 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autoinflammation

Publications

Created: 19 Oct 2022, 11:20 p.m.

Panel version: 1.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Autoinflammatory disorder MONDO:0019751, FBXW11-related
OMIM
605651
Clinvar variants
Variants in FBXW11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fbxw11 has been classified as Red List (Low Evidence).

20 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FBXW11 were changed from Autoinflammation to Autoinflammatory disorder MONDO:0019751, FBXW11-related

20 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fbxw11 has been classified as Red List (Low Evidence).

19 Oct 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Peter McNaughton (Queensland Children's Hospital)

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