Early onset or syndromic epilepsy
Gene: UBA5
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
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
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 617133Created: 4 Sep 2018, 4:11 p.m.
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
Source Wessex and West Midlands GLH was added to UBA5.
Source NHS GMS was added to UBA5.
Zornitza Stark: Bi-allelic variants in this ge
Gene: uba5 has been classified as Green List (High Evidence).
Gene: uba5 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: UBA5 were set to Epileptic encephalopathy, early infantile, 44, 617132
Publications for gene: UBA5 were set to 27545681; 27545674
Mode of inheritance for gene: UBA5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to UBA5. Panel: Genetic Epilepsy Syndromes
UBA5 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
UBA5 was created by Sarah Leigh