Oligodontia

Gene: LEF1

Red List (low evidence)

LEF1 (lymphoid enhancer binding factor 1)
EnsemblGeneIds (GRCh38): ENSG00000138795
EnsemblGeneIds (GRCh37): ENSG00000138795
OMIM: 153245, Gene2Phenotype
LEF1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; 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. So far, no pathogenic variants or variations involving the LEF1 gene have been reported in human.
Sources: Literature
Created: 4 Jun 2020, 2:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ectodermal dysplasia, no OMIM# yet

Publications

Chirag Patel (Genetic Health Queensland)

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. So far, no pathogenic variants or variations involving the LEF1 gene have been reported in human.
Sources: Literature
Created: 4 Jun 2020, 12:36 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
  • Literature
  • Expert Review Red
  • Literature
Phenotypes
  • Ectodermal dysplasia, no OMIM# yet
OMIM
153245
Clinvar variants
Variants in LEF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jun 2020, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

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