EXOC6B

exocyst complex component 6B
OMIM: 607880, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green EXOC6B in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675

Green EXOC6B in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675

Green EXOC6B in Multiple joint dislocations and laxity

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Literature
Phenotypes
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 618395

Green EXOC6B in Metaphyseal dysplasias

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.5

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675