SEM1

SEM1 26S proteasome subunit
OMIM: 601285, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green SEM1 in Homologous_recombination_deficiency_WTS_UMCCR


Level 2: Cancer
Version 1.0

0 reviews Unknown
Sources
  • Literature
  • Expert Review Green
Tags
  • umccr

Red SEM1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

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