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This Panel is marked as Internal

Intellectual_disability
Gene: CLIC2

CLIC2 (chloride intracellular channel 2)
EnsemblGeneIds (GRCh38): ENSG00000155962
EnsemblGeneIds (GRCh37): ENSG00000155962
OMIM: 300138, Gene2Phenotype
CLIC2 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

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

Phenotypes

Mental retardation, X-linked, syndromic 32, 300886
Intellectual disability

OMIM

Clinvar variants

Variants in CLIC2

Penetrance

Complete

Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CLIC2 was added to Intellectual_disabilitypanel. Source: Candidate 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 CLIC2 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)

CLIC2 was added to Intellectual_disabilitypanel. Source: Candidate 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 CLIC2 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)

CLIC2 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)

CLIC2 was added to Intellectual_disabilitypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen