1. Genes and Genomic Entities
  2. LGI3

LGI3

leucine rich repeat LGI family member 3
OMIM: 608302, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber LGI3 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.1
Latest signed off version: v6.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007
Tags
  • Q1_24_promote_green
Amber LGI3 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007
    Tags
    • Q1_24_promote_green