LGI4

leucine rich repeat LGI family member 4
OMIM: 608303, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green LGI4 in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Literature
Phenotypes
  • Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468
Red LGI4 in Congenital myopathy


Level 2: Neurology
Version 6.45
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    • Other
    • Literature
    Phenotypes
    • Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468
    Green LGI4 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ARTHROGRYPOSIS MULTIPLEX CONGENITA
    Green LGI4 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • ARTHROGRYPOSIS MULTIPLEX CONGENITA
    Red LGI4 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Arthrogryposis Multiplex Congenita
    • Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468
    • AMCNMY
    • Intellectual disability
    • Global developmental delay