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  2. Hereditary Neuropathy_CMT - isolated
  3. UBA5
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Hereditary Neuropathy_CMT - isolated

Gene: UBA5

Amber List (moderate evidence)
UBA5 (ubiquitin like modifier activating enzyme 5)
EnsemblGeneIds (GRCh38): ENSG00000081307
EnsemblGeneIds (GRCh37): ENSG00000081307
OMIM: 610552, Gene2Phenotype
UBA5 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

UBA5 variants have been associated with a range of neurological phenotypes, primarily epilepsy, ID and ataxia. Note these two reports of demyelinating peripheral neuropathy: 26872069 pair of sibs with mild ataxia, one with neuropathy; 32179706 five individuals from a consanguineous family presenting in infancy with severe fatal neuropathy. Some functional data. Due to early mortality, uncertain at present whether additional features would have developed.
Sources: Literature
Created: 10 Apr 2020, 1:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomyelinating neuropathy

Publications

Created: 10 Apr 2020, 1:14 a.m.

Panel version: 0.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypomyelinating neuropathy
OMIM
610552
Clinvar variants
Variants in UBA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uba5 has been classified as Amber List (Moderate Evidence).

10 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uba5 has been classified as Amber List (Moderate Evidence).

10 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UBA5 was added gene: UBA5 was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBA5 were set to 32179706; 26872069 Phenotypes for gene: UBA5 were set to Hypomyelinating neuropathy Review for gene: UBA5 was set to AMBER