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Genetic epilepsy syndromes

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 6 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR Early infantile epileptic encephalopathy. 10 unrelated families (reported by Muona et al and Colin et al, 2016). 11/14 affecteds had seizures. Also another case on HGMD in association with syndromic epilepsy - Tumiene et al.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy early infantile 44, 617132

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Numerous variants reported in unrelated cases.
Created: 6 Sep 2018, 12:40 p.m.
Comment on phenotypes: Variants also reported in ?Spinocerebellar ataxia, autosomal recessive 24 617133
Created: 4 Sep 2018, 4:11 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene are associated with EE in multiple unrelated individuals.
Created: 22 Aug 2018, 8:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 44, MIM#617132

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 44, 617132
OMIM
610552
Clinvar variants
Variants in UBA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to UBA5.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to UBA5.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Bi-allelic variants in this ge

26 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

6 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

4 Sep 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: UBA5 were set to Epileptic encephalopathy, early infantile, 44, 617132

4 Sep 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: UBA5 were set to 27545681; 27545674

4 Sep 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

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

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to UBA5. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

UBA5 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

UBA5 was created by Sarah Leigh