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This Panel is marked as Internal

Intellectual_disability
Gene: UBE2A

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

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Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Known gene (Grozeva et al, 2015)
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Radboud University Medical Center, Nijmegen

Phenotypes

Mental retardation, X-linked syndromic, Nascimento-type, 300860
Intellectual disability

OMIM

Clinvar variants

Variants in UBE2A

Penetrance

Complete

Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

UBE2A was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene UBE2A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

UBE2A was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene UBE2A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

UBE2A was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

UBE2A was added to Intellectual_disabilitypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen