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| Mendeliome v2.333 | PPIL4 | Sangavi Sivagnanasundram Classified gene: PPIL4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.333 | PPIL4 | Sangavi Sivagnanasundram Gene: ppil4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.320 | PPIL4 |
Sangavi Sivagnanasundram gene: PPIL4 was added gene: PPIL4 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PPIL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPIL4 were set to 34887573 Phenotypes for gene: PPIL4 were set to PPIL4-related intracranial saccular aneurysm MONDO:0016483 Review for gene: PPIL4 was set to AMBER Added comment: PMID 34887573 reports 5 unrelated families with 5 different heterozygous PPIL4 variants presenting with adult‑onset intracranial saccular aneurysm, a risk factor for subarachnoid haemorrhage. The variants are present in gnomAD v4.1, two are a bit common for AD AF. There are no pathogenic variants reported in ClinVar at this stage. The gene is not constraint for LoF however the authors of this are hypothesising haploinsufficiency as the mechanism of disease. Rated AMBER given the uncertainty of the GDA and functional evidence. Sources: Literature |
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