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Intellectual disability

Gene: ARHGEF4

Red List (low evidence)

ARHGEF4 (Rho guanine nucleotide exchange factor 4)
EnsemblGeneIds (GRCh38): ENSG00000136002
EnsemblGeneIds (GRCh37): ENSG00000136002
OMIM: 605216, Gene2Phenotype
ARHGEF4 is in 1 panel

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Not associated with phenotype in OMIM or G2P. Candidate gene, missense variants found in 42 ID cases, but not indication of pathogenicity provided (PMID 26350204). CNV's (loss and gain) encompassing ARHGEF4 reported (PMID 22543972).
Created: 31 Oct 2017, 9:57 a.m.

Mode of inheritance
Unknown

Phenotypes
developmental delay, ADHD, Aspergers' syndrome and other neurobehavioral abnormalities

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • developmental delay, ADHD, Aspergers' syndrome and other neurobehavioral abnormalities
OMIM
605216
Clinvar variants
Variants in ARHGEF4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ARHGEF4 was set to Unknown Publications for gene ARHGEF4 was set to [' 22543972', ' 26350204']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ARHGEF4 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ARHGEF4 was added to Intellectual disabilitypanel. Sources: Expert Review Red