Ectodermal dysplasia

Gene: LEF1

Red List (low evidence)

LEF1 (lymphoid enhancer binding factor 1)
EnsemblGeneIds (GRCh38): ENSG00000138795
EnsemblGeneIds (GRCh37): ENSG00000138795
OMIM: 153245, Gene2Phenotype
LEF1 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

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.
Created: 30 Jun 2021, 1:58 p.m. | Last Modified: 30 Jun 2021, 1:58 p.m.
Panel Version: 1.20

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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
Created: 9 Jun 2020, 10:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ectodermal dysplasia, no OMIM# yet

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Ectodermal dysplasia, no OMIM# yet
Tags
deletions
OMIM
153245
Clinvar variants
Variants in LEF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jun 2021, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag deletions tag was added to gene: LEF1.

30 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: lef1 has been classified as Red List (Low Evidence).

9 Jun 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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