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  3. LGI1
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Fetal anomalies

Gene: LGI1

Red List (low evidence)
LGI1 (leucine rich glioma inactivated 1)
EnsemblGeneIds (GRCh38): ENSG00000108231
EnsemblGeneIds (GRCh37): ENSG00000108231
OMIM: 604619, Gene2Phenotype
LGI1 is in 4 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Louise Carr (North Thames Genomic Medicine Service)

Red List (low evidence)

5 families with homozygous variants (PMID: 41000458, 1 family (missense c.245T>C (p.Ile82Thr)) and PMID: 40455867, 4 families (missense c.143G>T.p.Cys48Phe, nonsense c.931C>T; p.Arg311*, missense c.1570T>C; p.Ser524Pro and c.1672T>G; p.Ter558GlyextTer23). Consanguineous parents both of which as unaffected carries of a monoallelic variant. Similar clinical presentation where children would present with developmental and epileptic encephalopathy with neonatal/infantile epilepsy, global developmental delay/intellectual disability and infant/premature death. Brain MRI showed mild cerebral atrophy in a subset of these patients. A monoallelic variant in LGI1 variant was found in 5 families with ADPEAF. Also functional work completed in PMID: 40455867 showed that these variants resulted in reduced secretion of LGI1 and residual LGI1 function levels correlated with clinical severity. All affected individuals carried a single variant in this gene but also several unaffected individuals did. Whether these individuals manifest subclinical signs of disease is unknown
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 121, OMIM:621475; developmental and epileptic encephalopathy 121, MONDO:0980966

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Developmental and epileptic encephalopathy 121, OMIM:621475
  • developmental and epileptic encephalopathy 121, MONDO:0980966
OMIM
604619
Clinvar variants
Variants in LGI1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: LGI1 was added gene: LGI1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: LGI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LGI1 were set to 40455867; 11810107; 41000458 Phenotypes for gene: LGI1 were set to Developmental and epileptic encephalopathy 121, OMIM:621475; developmental and epileptic encephalopathy 121, MONDO:0980966