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DDG2P

Gene: LEF1

Green List (high evidence)
LEF1 (lymphoid enhancer binding factor 1)
EnsemblGeneIds (GRCh38): ENSG00000138795
EnsemblGeneIds (GRCh37): ENSG00000138795
OMIM: 153245, Gene2Phenotype
LEF1 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621224) and the OMIM record was last accessed on 18 December 2025.
Created: 18 Dec 2025, 9:49 p.m. | Last Modified: 18 Dec 2025, 9:49 p.m.
Panel Version: 6.14
The DDG2P confidence category for the disease LEF1-related ectodermal dysplasia and limb malformation is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 35583550).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
LEF1-related ectodermal dysplasia and limb malformation

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEF1-related ectodermal dysplasia and limb malformation
  • Ectodermal dysplasia 17 with or without limb malformations, OMIM:621224
  • ectodermal dysplasia 17 with or without limb malformations, MONDO:0979228
OMIM
153245
Clinvar variants
Variants in LEF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: LEF1 were changed from LEF1-related ectodermal dysplasia and limb malformation to LEF1-related ectodermal dysplasia and limb malformation; Ectodermal dysplasia 17 with or without limb malformations, OMIM:621224; ectodermal dysplasia 17 with or without limb malformations, MONDO:0979228

18 Dec 2025, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked was removed from gene: LEF1.

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: LEF1.

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: LEF1 was added gene: LEF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LEF1 were set to 35583550 Phenotypes for gene: LEF1 were set to LEF1-related ectodermal dysplasia and limb malformation