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  3. UBA5
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Ataxia - paediatric

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

Bi-allelic variants in UBA5 cause a range of neurological phenotypes. Ataxia has been specifically described only in one sibling pair. Multiple individuals reported with a more severe EE/ID phenotype, and non-specific movement disorders.
Created: 16 Apr 2020, 7:21 a.m. | Last Modified: 16 Apr 2020, 7:21 a.m.
Panel Version: 0.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 24, MIM# 617133; Epileptic encephalopathy, early infantile, 44 617132

Publications

Created: 16 Apr 2020, 7:21 a.m.
Last Modified: 16 Apr 2020, 7:21 a.m.
Panel version: 0.60

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • ?Autosomal recessive spinocerebellar ataxia 24, 617133
  • Early infantile epileptic encephalopathy 44, 617132
OMIM
610552
Clinvar variants
Variants in UBA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 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).

16 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).

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: UBA5 was added gene: UBA5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBA5 were set to 26872069; 29902590 Phenotypes for gene: UBA5 were set to ?Autosomal recessive spinocerebellar ataxia 24, 617133; Early infantile epileptic encephalopathy 44, 617132