SEM1

SEM1, 26S proteasome complex subunit
OMIM: 601285, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red SEM1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.305

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • SHFM1