UBAP1

ubiquitin associated protein 1
OMIM: 609787, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green UBAP1 in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Childhood-onset hereditary spastic paraplegia
  • Spastic paraplegia 80, autosomal dominant 618418

Green UBAP1 in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 1.130

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Childhood-onset hereditary spastic paraplegia
    • Spastic paraplegia 80, autosomal dominant 618418