Intellectual disability update Jan 2018

Gene: LGI1

Red List (low evidence)

LGI1 (leucine rich glioma inactivated 1)
EnsemblGeneIds (GRCh38): ENSG00000108231
EnsemblGeneIds (GRCh37): ENSG00000108231
OMIM: 604619, Gene2Phenotype
LGI1 is in 3 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Associated with Epilepsy, familial temporal lobe, 1 (MIM:600512) in OMIM and AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES in Gene2Phenotype. No mention of intellectual disability phenotypes found.
Created: 8 Mar 2018, 10:13 a.m.

Details

Sources
  • Expert Review Red
Phenotypes
  • Epilepsy, familial temporal lobe, 1 600512
  • AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES
OMIM
604619
Clinvar variants
Variants in LGI1
Penetrance
None
Panels with this gene

History Filter Activity

8 Mar 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for LGI1 were set to Epilepsy, familial temporal lobe, 1 600512; AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES

8 Mar 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LGI1 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

LGI1 was created by Ellen McDonagh