PanelApp (test)
  1. Genes and Genomic Entities
  2. UBAP1:Ensemblv115

UBAP1:Ensemblv115

ubiquitin associated protein 1
OMIM: 609787, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green UBAP1 in Hereditary Spastic Paraplegia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Literature
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 80, autosomal dominant 618418

Green UBAP1 in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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