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| Mendeliome v1.3998 | IL18BP | Zornitza Stark changed review comment from: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis. Autosomal recessive inheritance with complete penetrance is shown by carrier parents and heterozygous healthy siblings. In vitro assays demonstrate absence of IL‑18BP protein and loss of IL‑18 neutralisation.; to: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3998 | IL18BP | Zornitza Stark Classified gene: IL18BP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3998 | IL18BP | Zornitza Stark Gene: il18bp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3997 | IL18BP | Zornitza Stark edited their review of gene: IL18BP: Added comment: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis. Autosomal recessive inheritance with complete penetrance is shown by carrier parents and heterozygous healthy siblings. In vitro assays demonstrate absence of IL‑18BP protein and loss of IL‑18 neutralisation.; Changed rating: AMBER; Changed publications: 41334112; Changed phenotypes: {Hepatitis, fulminant viral, susceptibility to} 618549 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14588 | IL18BP | Zornitza Stark Marked gene: IL18BP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14588 | IL18BP | Zornitza Stark Gene: il18bp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2295 | IL18BP |
Zornitza Stark gene: IL18BP was added gene: IL18BP was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: IL18BP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL18BP were set to 31213488 Phenotypes for gene: IL18BP were set to {?Hepatitis, fulminant viral, susceptibility to} 618549 Review for gene: IL18BP was set to RED Added comment: Single individual reported with homozygous 40bp deletion in this gene and fulminant Hep A hepatitis. Sources: Expert list |
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