Hereditary neuropathy or pain disorder
Gene: UBA5
UBA5 (ubiquitin like modifier activating enzyme 5)
EnsemblGeneIds (GRCh38): ENSG00000081307
EnsemblGeneIds (GRCh37): ENSG00000081307
OMIM: 610552, Gene2Phenotype
UBA5 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000081307
EnsemblGeneIds (GRCh37): ENSG00000081307
OMIM: 610552, Gene2Phenotype
UBA5 is in 7 panels
1 review
Arina Puzriakova (Genomics England Curator)
Note that UBA5 variants have been associated with a range of neurological phenotypes including epilepsy, ID and ataxia.
PMID: 32179706 (2020) - Five affected individuals from a consanguineous family presenting with a severe congenital neuropathy causing early death in infancy. Some in vitro functional data included. Due to early mortality, unclear whether additional features previously associated with UBA5 variants would have developed.
Sources: LiteratureCreated: 2 Dec 2020, 12:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelinating neuropathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Phenotypes
-
- Hypomyelinating neuropathy
- OMIM
- 610552
- Clinvar variants
- Variants in UBA5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
2 Dec 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: UBA5 was added gene: UBA5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBA5 were set to 32179706 Phenotypes for gene: UBA5 were set to Hypomyelinating neuropathy