Polymicrogyria and Schizencephaly
Gene: RAC1EnsemblGeneIds (GRCh38): ENSG00000136238
EnsemblGeneIds (GRCh37): ENSG00000136238
OMIM: 602048, Gene2Phenotype
RAC1 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rac1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rac1 has been classified as Green List (High Evidence).
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