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This Panel is marked as Internal

Intellectual_disability
Gene: TSPAN7

TSPAN7 (tetraspanin 7)
EnsemblGeneIds (GRCh38): ENSG00000156298
EnsemblGeneIds (GRCh37): ENSG00000156298
OMIM: 300096, Gene2Phenotype
TSPAN7 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

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

Phenotypes

Mental retardation, X-linked 58, 300210
Intellectual disability

OMIM

Clinvar variants

Variants in TSPAN7

Penetrance

Complete

Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TSPAN7 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 TSPAN7 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)

TSPAN7 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 TSPAN7 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)

TSPAN7 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)

TSPAN7 was added to Intellectual_disabilitypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen