LGI1

leucine rich glioma inactivated 1
OMIM: 604619, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
No list LGI1 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Removed
    • DD-Gene2Phenotype
    Phenotypes
    • AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES 600512
    Tags
    • curated_removed
    Green LGI1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.167
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Epilepsy, familial temporal lobe, 1, OMIM:600512
    • developmental and epileptic encephalopathy, MONDO:0100620
    Red LGI1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.345
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review Red
    Phenotypes
    • Epilepsy, familial temporal lobe, 1, OMIM:600512
    • developmental and epileptic encephalopathy, MONDO:0100620