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Epileptic encephalopathy

Gene: UBE2A

Green List (high evidence)

UBE2A (ubiquitin conjugating enzyme E2 A)
EnsemblGeneIds (GRCh38): ENSG00000077721
EnsemblGeneIds (GRCh37): ENSG00000077721
OMIM: 312180, Gene2Phenotype
UBE2A is in 4 panels

5 reviews

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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).
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

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for UBE2A were set to Mental retardation, X-linked syndromic, Nascimento-type

29 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for UBE2A were set to Nascimento et al (2006) Am J Hum Genet 79: 549-555

29 Jan 2016, Gel status: 4

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

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

UBE2A was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

UBE2A was added to Epileptic encephalopathypanel. Sources: UKGTN