1. Genes and Genomic Entities
  2. EXOC6B

EXOC6B

exocyst complex component 6B
OMIM: 607880, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green EXOC6B in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.40
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Spondyloepimetaphyseal dysplasia with joint laxity, type 3, OMIM:618395
    Green EXOC6B in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.185
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Spondyloepimetaphyseal dysplasia with joint laxity, type 3, OMIM:618395