LGI4

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green LGI4 in Other rare neuromuscular disorders


Version 19.199
Latest signed off version: v19.1 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468
  • Arthrogryposis Multiplex Congenita
  • AMCNMY
Green LGI4 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0 (22 Mar 2023)

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 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.36
Latest signed off version: v4.0 (22 Mar 2023)

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


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

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


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    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
    Green LGI4 in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468