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| Mendeliome v2.129 | SLIT1 | chirag patel Marked gene: SLIT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.129 | SLIT1 | chirag patel Gene: slit1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.129 | SLIT1 |
chirag patel gene: SLIT1 was added gene: SLIT1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SLIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLIT1 were set to 36855159 Phenotypes for gene: SLIT1 were set to Familial bicuspid aortic valve, MONDO:0007194 Review for gene: SLIT1 was set to RED Added comment: 7 unrelated individuals with isolated bicuspid aortic valve and 7 different heterozygous SLIT1 variants (6 x missense, 1 x nonsense). Five variants are rare but 2 missense variants are common in gnomAD (with one case having a variant in another gene). No segregation data or functional validation is provided. Sources: Literature |
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