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This Panel is marked as Internal

Intellectual_disability
Gene: BRWD3

BRWD3 (bromodomain and WD repeat domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000165288
EnsemblGeneIds (GRCh37): ENSG00000165288
OMIM: 300553, Gene2Phenotype
BRWD3 is in 5 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

Radboud University Medical Center, Nijmegen
Known gene (Grozeva et al, 2015)
Emory Genetics Laboratory
Known gene (Grozeva et al, 2015)
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Mental Retardation, X-linked
Mental retardation, X-linked 93, 300659
Intellectual disability

OMIM

Clinvar variants

Variants in BRWD3

Penetrance

Complete

Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

BRWD3 was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BRWD3 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: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

BRWD3 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BRWD3 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: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

BRWD3 was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BRWD3 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)

BRWD3 was added to Intellectual_disabilitypanel. Source: Illumina TruGenome Clinical Sequencing Services

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BRWD3 was added to Intellectual_disabilitypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen