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  3. RAC2
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Newborns additional phenotypes panel 1

Gene: RAC2

Green List (high evidence)
RAC2 (Rac family small GTPase 2)
EnsemblGeneIds (GRCh38): ENSG00000128340
EnsemblGeneIds (GRCh37): ENSG00000128340
OMIM: 602049, Gene2Phenotype
RAC2 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Internal inclusion list only
Created: 26 Sep 2024, 3:36 p.m. | Last Modified: 25 Oct 2024, 10:46 a.m.
Panel Version: 0.100
Created: 26 Sep 2024, 3:36 p.m.
Last Modified: 25 Oct 2024, 10:46 a.m.
Panel version: 0.100

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
https://pubmed.ncbi.nlm.nih.gov/35596857/ and https://pubmed.ncbi.nlm.nih.gov/31071452/. and https://search.clinicalgenome.org/kb/genes/HGNC:9802
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
There are 2 AD phenotypes with different MOPs associated:
Immunodeficiency 73A (DN) & Immunodeficiency 73B (GOF).
Because the category of 73A is 3, this will not be included in the programme, whereas 73B's category is 1, so this is the phenotype associated in the panel here.
Created: 15 May 2023, 3:08 p.m. | Last Modified: 15 May 2023, 3:08 p.m.
Panel Version: 0.11
Created: 15 May 2023, 3:08 p.m.
Last Modified: 15 May 2023, 3:08 p.m.
Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 73B
Tags
special_consideration internal_inclusion_list_only
OMIM
602049
Clinvar variants
Variants in RAC2
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: RAC2.

30 Oct 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: RAC2.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 73B for gene: RAC2

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 73B for gene: RAC2

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 73B for gene: RAC2

15 May 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

gene: RAC2 was added gene: RAC2 was added to Newborns additional phenotypes panel. Sources: Expert Review Green Mode of inheritance for gene: RAC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAC2 were set to Immunodeficiency 73B Mode of pathogenicity for gene: RAC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments