1. Genes and Genomic Entities
  2. LGI3

LGI3

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green LGI3 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
  • NHS GMS
  • Literature
Phenotypes
  • Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007
Green LGI3 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
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007
Green LGI3 in Intellectual disability


Level 2: Developmental disorders
Version 9.279
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 Green
    • NHS GMS
    • Literature
    Phenotypes
    • Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007