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Intellectual disability syndromic and non-syndromic

Gene: UBA5

Green List (high evidence)

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

1 review

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

OMIM: 617132

This is a well-established ID gene
Created: 15 Sep 2023, 1:10 a.m. | Last Modified: 15 Sep 2023, 1:10 a.m.
Panel Version: 0.5399

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Epileptic encephalopathy, early infantile, 44 (MIM#617132)
OMIM
610552
Clinvar variants
Variants in UBA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uba5 has been classified as Green List (High Evidence).

18 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UBA5 were changed from to Epileptic encephalopathy, early infantile, 44 (MIM#617132)

18 Sep 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UBA5 were set to 33811063

18 Sep 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UBA5 were set to

18 Sep 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UBA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UBA5 was added gene: UBA5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UBA5 was set to Unknown