UBAP1

ubiquitin associated protein 1
OMIM: 609787, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green UBAP1 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.295

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary spastic paraplegia

Green UBAP1 in Hereditary spastic paraplegia - childhood onset


Version 2.145
Latest signed off version: v2.18 (8 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary spastic paraplegia

Green UBAP1 in Hereditary spastic paraplegia - adult onset


Version 1.102
Latest signed off version: v1.27 (5 Aug 2021)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary spastic paraplegia

Green UBAP1 in Severe Paediatric Disorders


Version 1.127

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 80, autosomal dominant, 618418