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| Mendeliome v1.3080 | LIMK1 | Zornitza Stark Marked gene: LIMK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3080 | LIMK1 | Zornitza Stark Gene: limk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3080 | LIMK1 |
Zornitza Stark gene: LIMK1 was added gene: LIMK1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: LIMK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LIMK1 were set to 40491492 Phenotypes for gene: LIMK1 were set to Endocrine system disorder, MONDO:0005151, LIMK1-related Review for gene: LIMK1 was set to RED Added comment: Two individuals reported with divergent phenotypes and divergent underlying mechanisms postulated. One individual exhibited epileptic encephalopathy and developmental delay, while the other showed common variable immune deficiency and glucose dysregulation. Actin polymerization was significantly decreased in individual 1, whereas it was increased in individual 2. Insulin-secreting cell lines expressing the LIMK1 variant of individual 1 exhibited significantly slower exocytosis, contrasting the rapid and uncontrolled exocytosis in individual 2. Intriguingly, both variants led to increased overall insulin secretion. Hold off further panel distribution until phenotypic associations clarified through further case reports. Sources: Literature |
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