1. Genes and Genomic Entities
  2. BTRC

BTRC

beta-transducin repeat containing E3 ubiquitin protein ligase
OMIM: 603482, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber BTRC in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert Review Amber
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Split-hand/foot malformation 3, gene duplication syndrome, OMIM:246560
    • split hand-foot malformation 3, MONDO:0009525
    Tags
    • cnv
    • microduplication
    Amber BTRC in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Split-hand/foot malformation 3, gene duplication syndrome, OMIM:246560
    • split hand-foot malformation 3, MONDO:0009525
    Tags
    • cnv
    • microduplication