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| Oligodontia v0.5 | LEF1 | Zornitza Stark Marked gene: LEF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Oligodontia v0.5 | LEF1 | Zornitza Stark Gene: lef1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Oligodontia v0.5 | LEF1 |
Chirag Patel gene: LEF1 was added gene: LEF1 was added to Oligodontia. Sources: Literature Mode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LEF1 were set to PMID: 32022899 Phenotypes for gene: LEF1 were set to Ectodermal dysplasia, no OMIM# yet Review for gene: LEF1 was set to RED Added comment: In mice, targeted inactivation of the LEF1 gene results in a complete block of development of multiple ectodermal appendages. One report of two unrelated patients with 4q25 de novo deletion encompassing LEF1 , associated with severe oligodontia of primary and permanent dentition, hypotrichosis and hypohidrosis compatible with hypohidrotic ectodermal dysplasia. So far, no pathogenic variants or variations involving the LEF1 gene have been reported in human. Sources: Literature |
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