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Intellectual disability


Red List (low evidence)

ARHGEF2 (Rho/Rac guanine nucleotide exchange factor 2)
EnsemblGeneIds (GRCh38): ENSG00000116584
EnsemblGeneIds (GRCh37): ENSG00000116584
OMIM: 607560, Gene2Phenotype
ARHGEF2 is in 1 panel

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as red as current report limited to 2 brothers from consanguineous parents (PMID:28453519).
Created: 17 Aug 2017, 11:46 a.m.
Added ARHGEF2 to ID panel based on new OMIM gene/phenotype relationship. Evidence comes from PMID:28453519 (Ravindran et al. 2017) who identified a homozygous frameshift variant in ARHGEF2 in 2 brothers with consanguineous Kurdish-Turkish parents. They report that the patients developed intellectual disability (IQ <50 and severe developmental speech delay), mild microcephaly, and midbrain-hindbrain malformations.
Created: 17 Aug 2017, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

?Neurodevelopmental disorder with midbrain and hindbrain malformations, 617523



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Other
  • ?Neurodevelopmental disorder with midbrain and hindbrain malformations, 617523
Clinvar variants
Variants in ARHGEF2
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.

17 Aug 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

17 Aug 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ARHGEF2 was added to Intellectual disabilitypanel. Sources: Other

17 Aug 2017, Gel status: 0


Rebecca Foulger (Genomics England curator)

ARHGEF2 was created by rfoulger