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This Panel is marked as Internal

Intellectual_disability
Gene: ARHGEF6

ARHGEF6 (Rac/Cdc42 guanine nucleotide exchange factor 6)
EnsemblGeneIds (GRCh38): ENSG00000129675
EnsemblGeneIds (GRCh37): ENSG00000129675
OMIM: 300267, Gene2Phenotype
ARHGEF6 is in 2 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

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

Phenotypes

Mental retardation, X-linked 46, 300436
Mental Retardation, X-linked
Intellectual disability

OMIM

Clinvar variants

Variants in ARHGEF6

Penetrance

Complete

Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ARHGEF6 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 ARHGEF6 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)

ARHGEF6 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 ARHGEF6 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)

ARHGEF6 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)

ARHGEF6 was added to Intellectual_disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen