Hereditary spastic paraplegia - childhood onset

Gene: UBAP1

Green List (high evidence)

UBAP1 (ubiquitin associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000165006
EnsemblGeneIds (GRCh37): ENSG00000165006
OMIM: 609787, Gene2Phenotype
UBAP1 is in 3 panels

2 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Ten families reported all with truncating mutations. Adult and childhood onset.
Created: 10 May 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

From PMID:30929741: reported the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1. They identified pathological truncating variants in UBAP1 in affected persons from Iran, USA, Germany, Canada, Spain, and Bulgarian Roma. The genetic support ranges from linkage in the largest family (LOD = 8.3) to three confirmed de novo mutations. They also showed that mRNA in the fibroblasts of affected individuals escapes nonsense-mediated decay and thus leads to the expression of truncated proteins; in addition, concentrations of the full-length protein are reduced in comparison to those in controls.
Sources: Literature
Created: 2 May 2019, 1:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hereditary spastic paraplegia

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary spastic paraplegia
OMIM
609787
Clinvar variants
Variants in UBAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to UBAP1.

13 May 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to UBAP1. Rating Changed from Green List (high evidence) to Green List (high evidence)

2 May 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ubap1 has been classified as Green List (High Evidence).

2 May 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: UBAP1 was added gene: UBAP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Mode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBAP1 were set to 30929741 Phenotypes for gene: UBAP1 were set to Hereditary spastic paraplegia Review for gene: UBAP1 was set to GREEN