SEM1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red SEM1 in Limb disorders


Version 2.3
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Split hand/foot malformation 1, 183600
    Tags
    • polygenic

    Red SEM1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

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