Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Ectodermal dysplasia v1.20 LEF1 Arina Puzriakova Tag deletions tag was added to gene: LEF1.
Ectodermal dysplasia v1.20 LEF1 Arina Puzriakova Classified gene: LEF1 as Red List (low evidence)
Ectodermal dysplasia v1.20 LEF1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Levy et al. 2020 (PMID: 32022899) report 2 patients with signs of ectodermal dysplasia harbouring de novo deletions that overlap only at the regions containing LEF1. Supportive mouse model. Rating Red as currently there is no evidence of SNVs in LEF1 relating to this phenotype.
Ectodermal dysplasia v1.20 LEF1 Arina Puzriakova Gene: lef1 has been classified as Red List (Low Evidence).
Ectodermal dysplasia v1.6 LEF1 Zornitza Stark gene: LEF1 was added
gene: LEF1 was added to Ectodermal dysplasia. Sources: Literature
Mode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LEF1 were set to 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. No reports of SNVs.
Sources: Literature