Autoinflammatory Disorders
Gene: IRAK4EnsemblGeneIds (GRCh38): ENSG00000198001
EnsemblGeneIds (GRCh37): ENSG00000198001
OMIM: 606883, Gene2Phenotype
IRAK4 is in 4 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoinflammatory syndrome, MONDO:0019751, IRAK4-related
Peter McNaughton (Queensland Children's Hospital)
5 patients from 2 unrelated kindreds with bi-allelic mutations in IRAK4, resulting in a severe autoinflammatory phenotype without overt immune deficiency, presenting with fever without infection, increased inflammatory markers, massive splenomegaly, transfusion dependent anemia; and severe neuroinflammation in 3/5 cases.
Sources: LiteratureCreated: 26 Sep 2023, 11:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neuroinflammation, systemic autoinflammation, splenomegaly, and anemia
Publications
- PMID: 37744344
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Autoinflammatory syndrome, MONDO:0019751, IRAK4-related
- OMIM
- 606883
- Clinvar variants
- Variants in IRAK4
- Penetrance
- None
- Publications
-
- PMID: 37744344
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: irak4 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: IRAK4 were changed from neuroinflammation, systemic autoinflammation, splenomegaly, and anemia to Autoinflammatory syndrome, MONDO:0019751, IRAK4-related
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: irak4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)gene: IRAK4 was added gene: IRAK4 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: IRAK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IRAK4 were set to PMID: 37744344 Phenotypes for gene: IRAK4 were set to neuroinflammation, systemic autoinflammation, splenomegaly, and anemia Review for gene: IRAK4 was set to GREEN