EWSR1

EWS RNA binding protein 1
OMIM: 133450, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber EWSR1 in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.11
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Amber
Phenotypes
  • Amyotrophic lateral sclerosis, MONDO:0004976