Proteinuria
Gene: IL1RAP
IL1RAP (interleukin 1 receptor accessory protein)
EnsemblGeneIds (GRCh38): ENSG00000196083
EnsemblGeneIds (GRCh37): ENSG00000196083
OMIM: 602626, Gene2Phenotype
IL1RAP is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000196083
EnsemblGeneIds (GRCh37): ENSG00000196083
OMIM: 602626, Gene2Phenotype
IL1RAP is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
A pair of siblings with compound heterozygous variants in this gene and steroid-sensitive nephrotic syndrome. Functional effect of variants demonstrated but mouse model does not have proteinuria.
Sources: LiteratureCreated: 4 Oct 2020, 9:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Steroid-sensitive nephrotic syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Steroid-sensitive nephrotic syndrome
- OMIM
- 602626
- Clinvar variants
- Variants in IL1RAP
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
4 Oct 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: il1rap has been classified as Red List (Low Evidence).
4 Oct 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IL1RAP was added gene: IL1RAP was added to Proteinuria. Sources: Literature Mode of inheritance for gene: IL1RAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL1RAP were set to 31954058 Phenotypes for gene: IL1RAP were set to Steroid-sensitive nephrotic syndrome Review for gene: IL1RAP was set to RED