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| Mendeliome v0.9750 | IL1RAPL1 | Zornitza Stark Marked gene: IL1RAPL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9750 | IL1RAPL1 | Zornitza Stark Gene: il1rapl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9750 | IL1RAPL1 | Zornitza Stark Phenotypes for gene: IL1RAPL1 were changed from to Intellectual developmental disorder, X-linked 21 MIM#300143 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9749 | IL1RAPL1 | Zornitza Stark Publications for gene: IL1RAPL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9748 | IL1RAPL1 | Zornitza Stark Mode of inheritance for gene: IL1RAPL1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9737 | IL1RAPL1 | Ain Roesley reviewed gene: IL1RAPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34452636, 27470653, 21484992, 18801879, 18801879; Phenotypes: Intellectual developmental disorder, X-linked 21 MIM#300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4774 | IL1RAP | Zornitza Stark Marked gene: IL1RAP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4774 | IL1RAP | Zornitza Stark Gene: il1rap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4774 | IL1RAP |
Zornitza Stark gene: IL1RAP was added gene: IL1RAP was added to Mendeliome. 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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| Mendeliome v0.0 | IL1RAPL1 |
Zornitza Stark gene: IL1RAPL1 was added gene: IL1RAPL1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IL1RAPL1 was set to Unknown |
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