LOXL3

lysyl oxidase like 3
OMIM: 607163, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber LOXL3 in Stickler syndrome


Level 2: Ophthalmology
Version 4.8
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Myopia 28, autosomal recessive, OMIM:619781
  • Stickler syndrome, MONDO:0019354
Tags
  • Q2_26_promote_green
Amber LOXL3 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 9.9
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Myopia 28, autosomal recessive, OMIM:619781
    • Stickler syndrome, MONDO:0019354
    Amber LOXL3 in Monogenic hearing loss


    Level 2: Audiology
    Version 6.13
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Myopia 28, autosomal recessive, OMIM:619781
    • Stickler syndrome, MONDO:0019354
    Tags
    • Q2_26_promote_green
    Amber LOXL3 in Clefting


    Level 2: Musculoskeletal
    Version 7.3
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Myopia 28, autosomal recessive, OMIM:619781
    • Stickler syndrome, MONDO:0019354
    Tags
    • Q2_26_promote_green
    Amber LOXL3 in Retinal disorders


    Level 2: Ophthalmology
    Version 9.3
    Latest signed off version: v9.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Myopia 28, autosomal recessive, OMIM:619781
    • Stickler syndrome, MONDO:0019354
    Tags
    • Q2_26_promote_green