Epileptic encephalopathy
Gene: UBE2A
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for UBE2A were set to Mental retardation, X-linked syndromic, Nascimento-type
Publications for UBE2A were set to Nascimento et al (2006) Am J Hum Genet 79: 549-555
Mode of inheritance for UBE2A was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
The Gel status was updated for this whole panel
UBE2A was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
UBE2A was added to Epileptic encephalopathypanel. Sources: UKGTN