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Fetal anomalies

Gene: LEF1

Green List (high evidence)
LEF1 (lymphoid enhancer binding factor 1)
EnsemblGeneIds (GRCh38): ENSG00000138795
EnsemblGeneIds (GRCh37): ENSG00000138795
OMIM: 153245, Gene2Phenotype
LEF1 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Beth Young (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Green on Ectodermal dysplasia and DDG2P panels. Green on Aus FA panel. Limb malformations include radial ray defects and unilateral or bilateral ectrodactyly. Levy et al. report 2 unrelated patients with severe oligodontia of primary and permanent dentition, hypotrichosis and hypohidrosis consistent with diagnosis of hypohidrotic ectodermal dysplasia. Both individuals has a de novo 4q25 deletion encompassing LEF1. Dufour et al. reported monoallelic variants in 11 affected individuals from 4 unrelated families and a bialleleic variant in an affected individual from a consanguineous family. The phenotypic spectrum includes various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Functional data suggests 2 molecular mechanisms; haploinsufficiency or loss of DNA binding are responsible for a mild to moderate phenotype, whereas loss of ?-catenin binding caused by biallelic variants is associated with a severe phenotype
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ectodermal dysplasia 17 with or without limb malformations, OMIM:621224

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 17 with or without limb malformations, OMIM:621224
OMIM
153245
Clinvar variants
Variants in LEF1
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Ectodermal dysplasia 17 with or without limb malformations, OMIM:621224 for gene: LEF1

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: LEF1 was added gene: LEF1 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted