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| Mendeliome v2.240 | BIRC3 |
Zornitza Stark gene: BIRC3 was added gene: BIRC3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: BIRC3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: BIRC3 were set to 42335979 Phenotypes for gene: BIRC3 were set to Inborn error of immunity, MONDO:0003778 Review for gene: BIRC3 was set to AMBER Added comment: BIRC3 encodes cellular inhibitor of apoptosis protein 2 (cIAP2), a regulator of TNF signalling. Association with Crohn's disease: Monoallelic disease -- 8 individuals from 7 families with heterozygous BIRC3 variants (including 1 de novo and 2 recurrent p.H312Y families; inheritance of rest not determined); functional assays show impaired RIPK1 ubiquitylation and increased epithelial cell death. Biallelic disease (infancy onset) – 6 individuals from 3 consanguineous families with homozygous loss-of-function BIRC3 variants; patient‑cell and animal models recapitulate the disease phenotype. Two MOIs proposed, several of the variants not segregated, others homozygous, hence Amber rating overall. Sources: Literature |
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| Mendeliome v2.0 | RIPK1 | Gene migrated from ENSG00000137275 to ENSG00000137275 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3446 | RIPK1 | Lucy Spencer reviewed gene: RIPK1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammation with episodic fever and lymphadenopathy MIM#618852; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2680 | RIPK1 | Zornitza Stark Marked gene: RIPK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2680 | RIPK1 | Zornitza Stark Gene: ripk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2680 | RIPK1 | Zornitza Stark Phenotypes for gene: RIPK1 were changed from to Immunodeficiency 57, MIM#618108 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2679 | RIPK1 | Zornitza Stark Publications for gene: RIPK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2678 | RIPK1 | Zornitza Stark Mode of inheritance for gene: RIPK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2677 | RIPK1 | Zornitza Stark reviewed gene: RIPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30026316, 30591564, 31213653, 31827280; Phenotypes: Immunodeficiency 57, MIM#618108; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | RIPK1 |
Zornitza Stark gene: RIPK1 was added gene: RIPK1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RIPK1 was set to Unknown |
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