Epileptic encephalopathy
Gene: UBE2AEnsemblGeneIds (GRCh38): ENSG00000077721
EnsemblGeneIds (GRCh37): ENSG00000077721
OMIM: 312180, Gene2Phenotype
UBE2A is in 4 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked syndromic, Nascimento-type
Publications
- Nascimento et al (2006) Am J Hum Genet 79: 549-555
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked syndromic, Nascimento-type
Publications
- Nascimento et al (2006) Am J Hum Genet 79: 549-555
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked syndromic, Nascimento-type
Publications
- Nascimento et al (2006) Am J Hum Genet 79: 549-555
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked syndromic, Nascimento-type
Publications
- Nascimento et al (2006) Am J Hum Genet 79: 549-555
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirm X-linked recessive (OMIM), hemizygous (G2P).Created: 29 Jan 2016, 12:17 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Mental retardation, X-linked syndromic, Nascimento-type
- OMIM
- 312180
- Clinvar variants
- Variants in UBE2A
- Penetrance
- Complete
- Publications
-
- Nascimento et al (2006) Am J Hum Genet 79: 549-555
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for UBE2A were set to Mental retardation, X-linked syndromic, Nascimento-type
Set publications
Ellen McDonagh (Genomics England Curator)Publications for UBE2A were set to Nascimento et al (2006) Am J Hum Genet 79: 549-555
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for UBE2A was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)UBE2A was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)UBE2A was added to Epileptic encephalopathypanel. Sources: UKGTN