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| Proteinuric renal disease v2.36 | IL1RAP | Eleanor Williams Classified gene: IL1RAP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.36 | IL1RAP | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to red based on expert review reporting one case. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.36 | IL1RAP | Eleanor Williams Gene: il1rap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.26 | IL1RAP |
Zornitza Stark gene: IL1RAP was added gene: IL1RAP was added to Proteinuric renal disease. 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 Added comment: 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: Literature |
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