Early onset or syndromic epilepsy
Gene: UBE2A
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
XLR mental retardation Nascimento type. Epilepsy is often reported in this syndrome. Brunsma HMG 2015, 29 identifed patients - 17 intragenic variant and 12 larger deletions encompassing this gene.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked syndromic, Nascimento-type, 300860
Publications
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked syndromic, Nascimento-type
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked syndromic, Nascimento-type
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked syndromic, Nascimento-type
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked syndromic, Nascimento-type
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Confirm X-linked recessive (OMIM), hemizygous (G2P).Created: 29 Jan 2016, 12:17 p.m.
Source Wessex and West Midlands GLH was added to UBE2A.
Source NHS GMS was added to UBE2A.
Ellen McDonagh: Comment on mode of inheritance
Victorian Clinical Genetics Services was added to UBE2A. Panel: Genetic Epilepsy Syndromes
UBE2A was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,UKGTN
UBE2A was created by Sarah Leigh