UNC50

unc-50 inner nuclear membrane RNA binding protein
OMIM: 617826, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber UNC50 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Arthrogryposis multiplex congenita MONDO:0015168

Amber UNC50 in Congenital Myasthenia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • arthrogryposis multiplex congenita MONDO:0015168
  • congenital myasthenic syndrome MONDO:0018940