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This Panel is marked as Internal

Intellectual_disability
Gene: UPF3B

UPF3B (UPF3B, regulator of nonsense mediated mRNA decay)
EnsemblGeneIds (GRCh38): ENSG00000125351
EnsemblGeneIds (GRCh37): ENSG00000125351
OMIM: 300298, Gene2Phenotype
UPF3B is in 3 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)
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Known gene (Grozeva et al, 2015)
Emory Genetics Laboratory

Phenotypes

Mental Retardation, X-linked
Mental retardation, X-linked, syndromic 14, 300676
Intellectual disability

OMIM

Clinvar variants

Variants in UPF3B

Penetrance

Complete

Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

UPF3B 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 UPF3B 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)

UPF3B 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 UPF3B 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)

UPF3B 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 UPF3B 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)

UPF3B was added to Intellectual_disabilitypanel. Source: Emory Genetics Laboratory

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

UPF3B was added to Intellectual_disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen