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| Mendeliome v1.3487 | RBM15 | Zornitza Stark Marked gene: RBM15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3487 | RBM15 | Zornitza Stark Gene: rbm15 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3485 | RBM15 |
Sangavi Sivagnanasundram gene: RBM15 was added gene: RBM15 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RBM15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RBM15 were set to 41058181 Phenotypes for gene: RBM15 were set to Congenital mirror movements, RBM15-related, MONDO:0016558 Review for gene: RBM15 was set to RED Added comment: One 27-year-old proband reported with mild mirror movements affecting only hands. De novo heterozygous was identified in the affected individual and absent from asymptomatic parents - p.Ser175Lysfs∗8 - absent in gnomADv4.1 RBM15 is constraint for LOF according to gnomAD v4.1 [pLI = 1;o/e = 0.11 (0.06 - 0.21)] however, LoF isn't an established mechanism of disease. Sources: Literature |
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