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| Mendeliome v2.0 | FBLN2 | Gene migrated from ENSG00000163520 to ENSG00000163520 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4876 | FBLN2 |
Chirag Patel changed review comment from: 2 unrelated individuals with idiopathic PAH from a large cohort with rare heterozygous missense (p.(Leu774Pro)) or splice (c.2842+1G>C) variant in FBLN2. The variants are located within the calcium-binding domain which could reduce calcium binding affinity. No segregation studies or functional studies performed.; to: 2 unrelated individuals with idiopathic PAH from a large cohort with rare heterozygous missense (p.(Leu774Pro)) or splice (c.2842+1G>C) variant in FBLN2. The variants are located within the calcium-binding domain which could reduce calcium binding affinity. No segregation studies or functional studies performed. |
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| Mendeliome v1.4876 | FBLN2 | Chirag Patel reviewed gene: FBLN2: Rating: RED; Mode of pathogenicity: None; Publications: 41882294; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, FBLN2-related; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1093 | FBLN2 | Zornitza Stark Marked gene: FBLN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1093 | FBLN2 | Zornitza Stark Gene: fbln2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1093 | FBLN2 |
Zornitza Stark gene: FBLN2 was added gene: FBLN2 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: FBLN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBLN2 were set to 33971972 Phenotypes for gene: FBLN2 were set to Pulmonary arterial hypertension MONDO:0015924, FBLN2-related Review for gene: FBLN2 was set to RED Added comment: LIMITED by ClinGen. Out of a cohort of 1647 idiopathic PAH cases, 3 rare predicted deleterious missense variants were identified in 6 unrelated individuals with one variant recurrent in four individuals. Gene-disease association also supported by tissue expression data. Sources: Expert list |
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