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| Mendeliome v1.4057 | LATS1 |
Sangavi Sivagnanasundram gene: LATS1 was added gene: LATS1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: LATS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LATS1 were set to 35986120 Phenotypes for gene: LATS1 were set to cerebral cavernous malformations MONDO:0031037 Review for gene: LATS1 was set to RED Added comment: LATS1 encodes a serine‑threonine kinase in the Hippo signaling pathway that regulates YAP activity. One reported Chinese family with missense variant (c.821C>T, p.Thr274Ile) in LATS1 and a phenotype consistent with CCM on imaging. The variant appeared to segregate in the family in affected individuals however there are multiple individuals that weren't assessed. Sources: Literature |
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