1. Panels
  2. Intellectual disability
  3. LGI3
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: LGI3

Green List (high evidence)
LGI3 (leucine rich repeat LGI family member 3)
EnsemblGeneIds (GRCh38): ENSG00000168481
EnsemblGeneIds (GRCh37): ENSG00000168481
OMIM: 608302, Gene2Phenotype
LGI3 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 2:57 p.m. | Last Modified: 26 Sep 2024, 2:57 p.m.
Panel Version: 7.41
Comment on list classification: There is sufficient evidence available (eight unrelated families and mouse model) for the promotion of this gene to green rating in the next GMS review.
Created: 30 Jan 2024, 10:43 a.m. | Last Modified: 30 Jan 2024, 10:43 a.m.
Panel Version: 5.411
PMID:35948005 reported sixteen individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3. All of them exhibited a potentially clinically recognizable peripheral nerve hyperexcitability syndrome (PNHS) trait characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability. All sixteen patients had global developmental delay and all thirteen tested patients had mild or moderate intellectual disability.

Lgi3-null mice showed reduced and mis-localized Kv1 channel complexes in myelinated peripheral axons.

This gene has been associated with relevant phenotypes in OMIM (MIM #620007), but not yet in Gene2Phenotype.
Sources: Literature
Created: 30 Jan 2024, 10:41 a.m. | Last Modified: 30 Jan 2024, 10:58 a.m.
Panel Version: 5.411

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007

Publications

Created: 30 Jan 2024, 10:41 a.m.
Last Modified: 30 Jan 2024, 10:58 a.m.
Panel version: 7.41

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007
OMIM
608302
Clinvar variants
Variants in LGI3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_24_promote_green was removed from gene: LGI3.

26 Sep 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to LGI3. Source Expert Review Green was added to LGI3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: lgi3 has been classified as Amber List (Moderate Evidence).

30 Jan 2024, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_24_promote_green tag was added to gene: LGI3.

30 Jan 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: LGI3 was added gene: LGI3 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: LGI3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LGI3 were set to 35948005 Phenotypes for gene: LGI3 were set to Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007 Review for gene: LGI3 was set to GREEN