Early onset or syndromic epilepsy
Gene: UBE3A
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
Angelman syndrome - missense, nonsense, splicing, del, ins - many reported on HGMD. 80.8% of patients = seizures, Buntinx et al 1995 (47 patients)Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Angelman syndrome, 105830
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Angelman syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Angelman syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Angelman syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Angelman syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comments from the Imprinting GeCIP subdomain: The regulatory region of UBE3A is >100kb and includes elements subject to parent-of-origin specific regulation. Noncoding indels and rearrangements of the region are well-established causes of disease, associated in some but not all cases with alterations of DNA methylation marks. Altered regulation of other transcripts within this same regulatory region are associated with both AS and Prader-Willi syndrome.Created: 29 Jan 2016, 12:05 p.m.
Comment on publications: References in Publications in square brackets refer to genomic indels/rearrangements demonstrating gene dosage effect upon disease, rather than disease-causing genetic mutations per se (sourced from Imprinting GeCIP subdomain).Created: 29 Jan 2016, 11:59 a.m.
Comment on mode of inheritance: Imprinted (on the imprinted gene list from GeCIP subdomain and G2P database): http://www.imprinting-disorders.eu/?page_id=276Created: 29 Jan 2016, 11:57 a.m.
Phenotypes for gene: UBE3A were changed from Angelman syndrome to Angelman syndrome 105830
Source Wessex and West Midlands GLH was added to UBE3A.
Source NHS GMS was added to UBE3A.
Ellen McDonagh: Comment on mode of inheritance
Victorian Clinical Genetics Services was added to UBE3A. Panel: Genetic Epilepsy Syndromes
UBE3A was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN
UBE3A was created by Sarah Leigh