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Intellectual disability

Gene: RAC1

Green List (high evidence)

RAC1 (Rac family small GTPase 1)
EnsemblGeneIds (GRCh38): ENSG00000136238
EnsemblGeneIds (GRCh37): ENSG00000136238
OMIM: 602048, Gene2Phenotype
RAC1 is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Updated rating from Amber to Green after clinical agreement from Arianna Tucci based on evidence from the 2016 and 2017 papers. Although PMID:28886345 (2017) don't specify the relatedness of individuals, they report a range of variants from a mix of populations- the variants are listed as dominant negative, constitutively active or unknown. Severity of DD is variable amongst patients but sufficient cases to reach threshold.
Created: 31 Oct 2017, 3:58 p.m.
Comment when marking as ready: Marked RAC1 as Ready: 31st October 2017. Green rating agreed by Arianna Tucci.
Created: 31 Oct 2017, 1:41 p.m.
Added RAC1 to ID panel as Amber awaiting clinical review: RAC1 identified as an ID candidate gene from large-scale statistical analysis in PMID:27479843 (2016). PMID:28886345 (2017) report 7 individuals with distinct de novo missense RAC1 variants and varying degrees of intellectual disability.
Created: 31 Oct 2017, 1:36 p.m.

Phenotypes
intellectual disability; developmental delay

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Literature
  • Expert Review Green
Phenotypes
  • intellectual disability
  • developmental delay
OMIM
602048
Clinvar variants
Variants in RAC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to RAC1.

12 Mar 2018, Gel status: 4

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: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RAC1 was added to Intellectual disability panel. Sources: Expert Review Green,Literature

29 Nov 2017, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

RAC1 was created by Ellen McDonagh