LGI1

leucine rich glioma inactivated 1
OMIM: 604619, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green LGI1 in Mendeliome


Version 1.2789

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, familial temporal lobe, 1, MIM# 6000512
  • Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related

Green LGI1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.169

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Epilepsy, familial temporal lobe, 1, MIM# 6000512
    • Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related

    Green LGI1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.202

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related

    Red LGI1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Epilepsy, familial temporal lobe, 1

    Red LGI1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.121

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Epilepsy, familial temporal lobe, 1