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 1.311

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary spastic paraplegia
Green UBAP1 in Childhood onset hereditary spastic paraplegia


Version 4.43
Latest signed off version: v4.0 (22 Mar 2023)

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 Adult onset hereditary spastic paraplegia


Version 3.21
Latest signed off version: v3.14 (31 Jul 2023)

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 1.184

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