Polymicrogyria and Schizencephaly

Gene: RAC1

Green List (high evidence)

RAC1 (Rac family small GTPase 1)
EnsemblGeneIds (GRCh38): ENSG00000136238
EnsemblGeneIds (GRCh37): ENSG00000136238
OMIM: 602048, Gene2Phenotype
RAC1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional individuals reported in PMID 35139179: polymicrogyria observed. Variants clustered between Q61 and R68 within the switch II region of RAC1, and are postulated to be activating.
Sources: Literature
Created: 5 Jan 2023, 3:20 a.m. | Last Modified: 5 Jan 2023, 3:22 a.m.
Panel Version: 0.186

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 48, MIM# 617751

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, autosomal dominant 48, MIM# 617751
OMIM
602048
Clinvar variants
Variants in RAC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rac1 has been classified as Green List (High Evidence).

5 Jan 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rac1 has been classified as Green List (High Evidence).

5 Jan 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAC1 was added gene: RAC1 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: RAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAC1 were set to 35139179 Phenotypes for gene: RAC1 were set to Mental retardation, autosomal dominant 48, MIM# 617751 Review for gene: RAC1 was set to GREEN